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Year 4 Exams > Clinical Genetics Old > Flashcards

Clinical Genetics Old Flashcards

1
Q

The following are the most typical faciocranial defects in Patau syndrome

a. Macrocephaly, cleft palate, hypotelorism
b. Macrocephaly, cleft lip and palate, microphthalmia
c. Microcephaly, cleft lip and palate, microphthalmia
d. Microcephaly, cleft palate, hypertelorism

A

c. Microcephaly, cleft lip and palate, microphthalmia

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2
Q

The child with down-syndrome:

a. Has a 10-20 times higher risk of leukemia than the “normal” population
b. Has a 10% chance of congenital heart disease
c. Will have an IQ over 80
d. Will be infertile regardless of gender

A

a. Has a 10-20 times higher risk of leukemia than the “normal” population

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3
Q

Who should you refer to a clinical geneticist?

a. A young couple with primary infertility
b. A child with dimorphic features and behavioral problems
c. A man with oligozoospermia
d. All of the above

A

d. All of the above

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4
Q

Prader-Willi syndrome is in the MAJORITY of cases caused by

a. Maternal disomy of chromosome 15
b. Paternal disomy of chromosome 15
c. Microdeletion on chromosome 15q derived from father
d. Microdeletion on chromosome 15q derived from mother

A

c. Microdeletion on chromosome 15q derived from father

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5
Q

An individual with 47, XXY karyotype

a. Will present with ambiguous genitalia at birth
b. Is most likely to present in childhood with precocious puberty
c. Will present at puberty with short stature
d. May present in adulthood with infertility

A

d. May present in adulthood with infertility

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6
Q

Achondroplasia is a genetic disorder with

a. Incomplete penetrance
b. Full penetrance
c. Variable expressivity and incomplete penetrance
d. Complex, heterogenous molecular background

A

b. Full penetrance

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7
Q

The following is TRUE about Smith-Lemli-Opitz syndrome

a. The disease is caused by 7-dehydrocholesterol reductase deficiency
b. 7-dehydrocholesterol serum levels are elevated
c. Cholesterol serum levels are decreased
d. All sentences above are true

A

d. All sentences above are true

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8
Q

The following statements concerning cystic fibrosis are true EXCEPT

a. Sweat chloride test is commonly performed at the time of diagnosis
b. The major cause of mortality is end-stage pulmonary disease
c. Meconium ileus may be the first symptom
d. It is inherited in an autosomal dominant manner

A

d. It is inherited in an autosomal dominant manner

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9
Q

Generalized hypotonia with onset in the first two months of life, lack of tendon flexes, severe motor disability with muscle atrophy are typical for

a. Duchenne-muscular dystrophy
b. Werdnig-Hoffmann disease
c. Fragile X-syndrome
d. Phenylketonuria

A

b. Werdnig-Hoffmann disease

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10
Q 
Intellectual disability, tall stature, macroorchidism, dolichocephaly, mandibular prognathism and protruding ears are typical clinical symptoms of a disease caused
by
a. A mutation in FMR1 gene
b. A mutation in HTT (IT15) gene
c. And additional X chromosome in a male
d. A mutation in MECP2 gene
A

a. A mutation in FMR1 gene

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11
Q

A woman whose son and brother have Duchenne-muscular dystrophy

a. Is an obligatory mutation carrier
b. Is not a mutation carrier
c. There is a 50% risk that the woman is a mutation carrier
d. There is a 75% risk that the woman is a mutation carrier

A

a. Is an obligatory mutation carrier

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12
Q

Spinal muscular atrophy is characterized by the occurrence of

a. Subtypes classified by the age and onset and the severity of clinical symptoms
b. Simultaneous mutations in SMN1 and SMN2 genes
c. Intellectual disability
d. All of the above

A

a. Subtypes classified by the age and onset and the severity of clinical symptoms

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13
Q

Lissencephaly is common in

a. Angelman syndrome
b. Miller-Dieker syndrome
c. Smith-Magenis syndrome
d. Williams syndrome

A

b. Miller-Dieker syndrome

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14
Q

Ultrasonographic features of Down syndrome in fetus are

  1. Increased size of nuchal translucency
  2. Decreased size of nuchal translucency
  3. Increase ossification of nose bone
  4. Decrease ossification of nose bone
  5. Shortened femur
  6. Bifid uvula

a. 1,4,5
b. 1,3,6
c. 1,3,5,6
d. 2,4,5

A

a. 1,4,5

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15
Q

Which diagnosis is the most probably in a 19-year old boy with muscle cramps, difficulties in running and climbing stair, elevated CK serum levels and primary myopathic electromyography (EMG)?

a. Becker’s muscular dystrophy
b. Spinal muscular atrophy
c. Duchenne muscular dystrophy
d. Juvenile Huntington’s disease

A

a. Becker’s muscular dystrophy

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16
Q

The Barr body is formed because of

a. Abnormalities in methylation process
b. Inactivation of one of the two chromosomes X
c. Disturbances in sex determination process
d. Activation of SRY gene

A

b. Inactivation of one of the two chromosomes X

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17
Q

In an individual with complete androgen insensitivity syndrome you expect the presence of

a. Ambiguous genitalia
b. The uterus and fallopian tubes
c. Testes in the abdominal cave
d. Epididymis, vas deferens, seminal vesicles

A

c. Testes in the abdominal cave

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18
Q

Which of the following statements about hemophilia A is FALSE?
a. The severity of the disorder depends on the residual activity of the
clotting factor
b. The symptoms may be prevented by the vitamin K supplementation
c. The disorder is inherited in an X-linked manner, but girls may rarely present with mild symptoms
d. It may be significantly debilitation without proper management

A

b. The symptoms may be prevented by the vitamin K supplementation

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19
Q

Thanatophoric dysplasia

a. Is one of the most common non-lethal skeletal dysplasias diagnosed prenatally
b. Is characterized by numerous intrauterine fractures hence is lethal in the perinatal period
c. Is genetically heterogenous with mutations in different genes dependent on the type of the disorder
d. May be diagnosed prenatally by ultrasound showing micromelia, narrow thorax and bowed femurs

A

d. May be diagnosed prenatally by ultrasound showing micromelia, narrow thorax and bowed femurs

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20
Q

Which tumors are specific for von Hippel Lindau syndrome?
a. Retinal hemangioblastoma, gastric cancer, clear cell renal carcinoma,
pheochromocytoma
b. Pancreatic neuroendocrine tumors, endolymphatic sac tumors, renal
angiomyolipoma, medullary thyroid cancer
c. Retinal hemangioblastoma, clear cell carcinoma, pancreatic endocrine
tumors, colorectal adenocarcinoma
d. Pancreatic tumors, endolymphatic sec tumors, clear cell renal carcinoma, pheochromocytoma

A

d. Pancreatic tumors, endolymphatic sec tumors, clear cell renal carcinoma, pheochromocytoma

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21
Q

Which of the following statements is TRUE?
a. The undifferentiated primitive gonad is formed from the Wolff in males
and Muller canals in females
b. The Wolff & Muller canals (ducts) develop into testes and ovaries,
respectively
c. Female external genitalia develop under the influence AMH
d. Male external genitalia develop under the influence of
dihydrotestosterone

A

d. Male external genitalia develop under the influence of

dihydrotestosterone

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22
Q

Karyotype 48, XXX, +21 is an example of

a. Nullisomy
b. Double trisomy
c. Triploidy
d. Tetrasomy

A

b. Double trisomy

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23
Q

47, XXX women:

a. Are always completely infertile
b. Have severe intellectual disability
c. Have short stature
d. Are often affected by premature ovarian failure

A

d. Are often affected by premature ovarian failure

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24
Q

Choose the answer containing only malformation sequences

a. Patau, Pierre-Robin
b. Pierre-Robin, CHARGE
c. Potter, CHARGE
d. Pierre-Robin, Potter

A

d. Pierre-Robin, Potter

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25
Q

Which of the following statements about a carrier of a FMR1 premutation is FALSE

a. She might develop a late-onset progressive cerebellar ataxia
b. She has short, fleshy, tapering fingers
c. She might have primary ovarian insufficiency
d. Have cognitive function is within normal range

A

d. Have cognitive function is within normal range

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26
Q

A newborn with ambiguous genitalia and congenital adrenal hyperplasia is expected to have

a. XX chromosome / uterus / ovaries
b. XY chromosomes / no uterus / testes in the abdomen
c. XX chromosomes / uterus / testes in the abdomen
d. XY chromosomes / no uterus / testes in the abdomen

A

a. XX chromosome / uterus / ovaries

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27
Q

Men affected by cystic fibrosis are most infertile because of

a. Hypogonadotropic hypogonadism
b. Hypergonadotropic hypogonadism
c. Congenital absence of vas deferens
d. Testectomy performed in early childhood due to bilateral gonadoblastoma

A

c. Congenital absence of vas deferens

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28
Q

In which hereditary cancer predisposition syndromes malignancy often appears before adulthood?

a. FAP, HNPC
b. HBC-ss, HOC-ss, HBOC-ss
c. FAP, hereditary retinoblastoma, Li-Fraumeni syndrome
d. Hereditary retinoblastoma, hereditary gastric cancer

A

c. FAP, hereditary retinoblastoma, Li-Fraumeni syndrome

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29
Q

A non-progressive congenital morphologic anomaly of a single organ or body part due to an alteration of the primary developmental program is defined as

a. Malformation
b. Deformation
c. Disruption
d. Dysplasia

A

a. Malformation

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30
Q

What determines which DNA fragment you amplify during PCR

a. DNA polymerase
b. Nucleotides
c. Restriction enzyme
d. Primers

A

d. Primers

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31
Q

An example of DNA lesion (damage) is

a. A chemical modification of a nucleotide
b. C to T transition
c. Nonsense mutation
d. Missense mutation

A

a. A chemical modification of a nucleotide

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32
Q

Indicate a high resolution, genome-wide method to study chromosomal aberration

a. PCR
b. Sequencing
c. PCR-RFLP
d. Array CGH

A

d. Array CGH

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33
Q

What is the function of DNA repair systems?

a. DNA mutation repair
b. DNA damage (lesion) repair
c. Cell-cycle control
d. Regulation of gene expression

A

a. DNA mutation repair

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34
Q

DNA methylation influences

a. DNA replication
b. Splicing
c. Protein folding
d. Chromatin compaction

A

d. Chromatin compaction

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35
Q

Which of the following statements about Turner syndrome is TRUE?

a. 45, X karyotype is universal
b. Tall stature in prepuberty is characteristic
c. Serum FSH is high in puberty
d. Uterine agenesis is characteristic

A

c. Serum FSH is high in puberty

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36
Q

Which of the following statements about fragile X syndrome (FXS) is TRUE?

a. All mothers of individuals with an FMR1 full mutation carry the same full mutations
b. Males with an FMR1 premutation are called normal transmitting males
c. Females heterozygous for the FMR1 full mutation never present with symptoms of the syndromes
d. Some of the males with an FMR1 full mutation may be asymptomatic

A

b. Males with an FMR1 premutation are called normal transmitting males

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37
Q

Which of the following statements is FALSE?

a. Individuals with Prader-Willi syndrome present in the newborns period with hypotonia and poor sucking reflex
b. The most common cardiovascular anomaly in Williams syndrome is SVAS (supravalvular aortic stenosis)
c. The main symptoms of Angelman syndrome include a heart defect and thymus hypoplasia
d. Individuals with Smith-Magenis syndrome typically exhibit behavioral abnormalities (aggression, self-mutilation) and sleep disturbances

A

c. The main symptoms of Angelman syndrome include a heart defect and thymus hypoplasia

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38
Q

Which of the following statements about Huntington disease (HD) is FALSE?

a. HD is caused by point mutation in the HTT gene localized on the short arm of chromosome 4
b. Predictive testing is not considered appropriate for asymptomatic at-risk individuals younger than age 18 years
c. Prominent rigidity with little chorea is associated with juvenile HD
d. HD is associated with subcortical dementia and psychiatric symptoms

A

a. HD is caused by point mutation in the HTT gene localized on the short arm of chromosome 4

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39
Q

Which of the following statement about spinal muscular atrophy (SMA) is TRUE?

a. Different clinical types of SMA (type I – IV) are caused by different mutations in the SMN1 gene
b. SMA is an X-linked dominant disorder hence may manifest itself in females and males
c. SMA is associated with an abnormal protein found in the sarcomeres of muscle cells
d. The risk of having another affected child by SMA is 25%, assuming the parents are carries

A

d. The risk of having another affected child by SMA is 25%, assuming the parents are carries

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40
Q

Find the FALSE statement

a. If possible, genetic testing of cancer predisposition syndromes should first include affected family members
b. In families affected by Huntington’s disease, pre-symptomatic genetic tests should never include children
c. Genetic testing of hereditary cancer predisposition syndromes should never be initiated before age of 18 years
d. Consenting the patient before whole-exome sequencing should include agreement to report incidental findings

A

c. Genetic testing of hereditary cancer predisposition syndromes should never be initiated before age of 18 years

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41
Q

According to the ISCN rules, a correct description of a translocation is

a. 46, XX, t (15;7)(q34;q12)
b. 46, XX, t (7,15)(q12,;q34)
c. 46, XX, rob(13;14)(q10;q10)
d. 46, XX, inv(9)(q11q13)

A

b. 46, XX, t (7,15)(q12,;q34)

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42
Q

Find a balanced aberration

a. 46, XX, r(7)(q24q25)
b. 46, XX, inv(9)(p12q13)
c. 46, XX, add(8)(p23)
d. 46, X, i(X)(q10)

A

b. 46, XX, inv(9)(p12q13)

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43
Q

Find an unbalanced aberration

a. 46, XX, inv(9)(p12q13)
b. 46, XX, t(5;12)(q11,p14),t(7;16)(p12;q23)
c. 46, XX, add(8)(p23)
d. 45, XX, rob(13;14)(q10;q10)

A

c. 46, XX, add(8)(p23)

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44
Q

According to the International System of Human Cytogenomic Nomenclature (ISCN), the abbreviation “r” means

a. Robertsonian translocation
b. Reciprocal
c. Ring chromosome
d. Recombinant chromosome

A

c. Ring chromosome

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45
Q

Karyotype, 69,XXY is an example of

a. Triploidy
b. Tetrasomy
c. Double trisomy
d. Tetraploidy

A

a. Triploidy

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46
Q

A test-tube for blood sampling for molecular analysis should contain

a. EDTA
b. Colcemide
c. Heparin
d. Nothing, no anticoagulant

A

c. Heparin

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47
Q

What laboratory test could confirm the diagnosis of Williams syndrome

a. GTG banding
b. FISH
c. aCGH
d. B and C are correct

A

d. B and C are correct

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48
Q

What laboratory test should be chosen to confirm the diagnosis of Klinefelter syndrome

a. GTG banding
b. Southern blot analysis
c. PCR
d. CBG banding

A

a. GTG banding

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49
Q

Array CGH may be used to

a. confirm a diagnosis of cystic fibrosis
b. check for unbalanced chromosomal aberrations
c. analysis dynamic mutations
d. check for balanced chromosomal aberrations

A

b. check for unbalanced chromosomal aberrations

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50
Q

MLPA technique is

a. A screening method
b. Based on a ligation process
c. A method dependent on PCR
d. All of the above answers are correct

A

d. All of the above answers are correct

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51
Q

Low birth weight is typical for

  1. Silver-Russel syndrome
  2. Smith-Lemli-Opitz syndrome
  3. Beckwith-Wiedemann syndrome
  4. Down syndrome

a. 1,2
b. 1,3
c. 2,4
d. 1,4

A

d. 1,4

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52
Q

Self-hugging sleep disturbances and aggressive behaviors characterize the phenotype of

a. Prader-Willi syndrome
b. Angelman syndrome
c. Smith-Magenis syndrome
d. Williams syndrome

A

c. Smith-Magenis syndrome

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53
Q

Short stature does not appear in

a. Turner syndrome
b. Prader-Willi syndrome
c. Beckwith-Wiedemann syndrome
d. Achondroplasia

A

c. Beckwith-Wiedemann syndrome

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54
Q

Increased risk of neoplasia appears in the following syndromes

  1. Klinefelter syndrome
  2. Beckwith-Wiedemann syndrome
  3. Down syndrome
  4. Williams syndrome
  5. Smith-Magenis syndrome

a. 1,2,3
b. 1,2,5
c. 1,3,5
d. 2,3,4

A

a. 1,2,3

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55
Q

Increased nuchal translucency found on ultrasound at the 13th week of pregnancy and holoprosencephaly at 21st week of pregnancy are symptoms that are suggestive of

a. Down syndrome
b. Edwards syndrome
c. Patau syndrome
d. Turner syndrome

A

c. Patau syndrome

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56
Q

FAP is caused by mutations in

a. MSH2
b. RET
c. TPS3
d. APC

A

d. APC

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57
Q

According to Knudson “two hits” hypothesis, in hereditary cancers

a. both hits changes are inherited
b. both hits changes are acquired
c. first hit change is inherited, second hit change is acquired
d. Knudson hypothesis refers only to sporadic cancers

A

c. first hit change is inherited, second hit change is acquired

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58
Q

“Double minute chromosomes” are
a. Small, fusion chromosomes occurring as a result of Robertsonian
translocation
b. Small, circular fragments of extrachromosomal DNA harboring amplified oncogenes
c. Small, double chromosome 22 fragments resulting in cat eye syndrome
d. Two Y chromosomes

A

b. Small, circular fragments of extrachromosomal DNA harboring amplified oncogenes

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59
Q

What symptoms might be found in the spectrum of Cockayne syndrome? Indicate the right compilation

  1. Photosensitivity
  2. Small stature
  3. Progressive neurologic degeneration Birdlike facies
  4. Cancer predisposition
  5. Microcephaly

a. 1,5
b. 2,4,6
c. 1,2,3,4,6
d. 1,2,3,4,5,6

A

c. 1,2,3,4,6

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60
Q

Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy are

a. NER syndromes
b. BER syndromes
c. MMR syndromes
d. HRR syndromes

A

a. NER syndromes

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61
Q

Non-random chromosome rearrangements in ataxia-teleangiectasia and Nijmegen syndrome selectively affect

a. Chromosome 9 and 22
b. Chromosome 1 and 19
c. Chromosome 8 and 14
d. Chromosome 7 and 14

A

d. Chromosome 7 and 14

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62
Q

RB1 is a

a. Protooncogene
b. Mismatch repair gene
c. Tumor suppressor gene
d. Mitochondrial gene

A

c. Tumor suppressor gene

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63
Q

Severe but proportional dwarfism, sun sensitivity, butterfly-shaped facial erythema, narrow face, with prominent nose and increased susceptibility to infections and malignancies are symptoms of

a. Nijmegen syndrome
b. Bloom syndrome
c. Cockayne syndrome
d. Silver-Russell syndrome

A

b. Bloom syndrome

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64
Q

Growth retardation, skeletal defects, progressive bone marrow failure and increased risk of leukemia are typically seen in individuals with

a. Fanconi anemia
b. Nijmegen syndrome
c. Li-Fraumeni syndrome
d. Cockayne syndrome

A

a. Fanconi anemia

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65
Q

Leukocoria and strabismus are often the first symptoms of

a. Wilms tumor
b. Neurofibromatosis type 2
c. Retinoblastoma
d. Bloom syndrome

A

c. Retinoblastoma

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66
Q

An increased risk of Wilms tumor can be found in the spectrum of

a. WAGR, Beckwith-Wiedemann, Denys-Drash syndrome, Perlman syndromes
b. Li-Fraumeni and Peutz-Jeghers syndromes
c. MEN1 and MEN2B syndromes
d. Von Hippel-Lindau, Peutz-Jeghers and Beckwith-Wiedemann syndromes

A

a. WAGR, Beckwith-Wiedemann, Denys-Drash syndrome, Perlman syndromes

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67
Q

Li-Fraumeni Syndrome should be suspected in the individuals who

a. Develop male breast cancer
b. Have triple negative breast cancer
c. Meet the Bethesda recommendations
d. Meet the Chompret criteria

A

d. Meet the Chompret criteria

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68
Q

Lisch nodules in patients with NF1 are

a. Optic nerve gliomas
b. Iris copper deposits
c. Iris hamartomas
d. Optic nerve neurofibromas

A

c. Iris hamartomas

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69
Q

Bilateral vestibular schwannomas are suggestive for

a. MEN1
b. MEN2A
c. Neurofibromatosis type 1
d. Neurofibromatosis type 2

A

d. Neurofibromatosis type 2

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70
Q

Indicate the malignancies that are typically seen in the spectrum of MEN2A and MEN2B syndromes

a. Medullary thyroid cancer and adrenocortical carcinoma
b. Medullary thyroid cancer and pheochromocytoma
c. Papillary thyroid cancer and pheochromocytoma
d. Papillary thyroid cancer and adrenocortical carcinoma

A

b. Medullary thyroid cancer and pheochromocytoma

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71
Q

Olaparib, used in a personalized ovarian cancer therapy, induces death of cancer cells carrying

a. BRCA1 mutations
b. Intact BRCA1
c. Intact BRCA2
d. CHEK2 mutations

A

a. BRCA1 mutations

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72
Q

Bilateral prophylactic salpingoophorectomy should be offered to

a. All patients diagnosed with breast cancer
b. All patients diagnosed with breast cancer before age 50
c. Only those carriers of BRCA1/BRCA2 pathogenic mutations who were diagnosed with breast cancer
d. All carriers with BRCA1/BRCA2 pathogenic mutations

A

d. All carriers with BRCA1/BRCA2 pathogenic mutations

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73
Q

Find TRUE statement about patients with melanoma
a. No personalized therapy for melanoma has been accepted yet
b. The presence of BRAF mutation allows for personalized therapy
c. The presence of TP53 mutation is critical for personalized therapy
d. Alterations in methylation pattern are of main importance for
personalized therapy

A

c. The presence of TP53 mutation is critical for personalized therapy

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74
Q

Somatic del(1p) and del(19q) are characteristic for

a. Primary glioblastoma
b. Meningioma
c. Ependymoma
d. Oligodendroglioma

A

d. Oligodendroglioma

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75
Q

WAGR acronym stands for

a. Wilms tumor, Aniridia, Genitourinary abnormalities, Retardation of psychomotor development
b. Wooly hair, Azoospermia, Gonadoblastoma risk, Renal abnormalities
c. Wormian bones, Adontia, Growth retardation, Radius bone defects
d. Wilms tumor, Adontia, Gonadoblastoma risk, Radius bone defects

A

a. Wilms tumor, Aniridia, Genitourinary abnormalities, Retardation of psychomotor development

76
Q

The “triple negative” breast cancer refers to

a. A patient who has been diagnosed with three primary breast and/or ovarian cancers
b. A breast cancer patient who has been diagnosed with no mutations in three genes: BRCA1, BRCA2 and PALB2
c. A breast cancer with no cell surface receptors for estrogen, progesterone and HER2
d. A breast cancer patient in whose family BRCA1 and BRCA2 mutations were excluded in at least three of 1st/2nd degree relatives

A

c. A breast cancer with no cell surface receptors for estrogen, progesterone and HER2

77
Q

In oncology, molecular prognostic markers allow to

a. Predict a tumor’s drug sensitivity
b. Establish the prognosis about the course of a disease
c. Predict tumor’s radio sensitivity
d. Decide about prophylactic resection of healthy organs

A

b. Establish the prognosis about the course of a disease

78
Q

EML4-ALK fusion gene is present in 3-5% of

a. Breast cancer
b. Small cell lung cancer
c. Non-small cell lung cancer
d. Colon cancer metastasis

A

c. Non-small cell lung cancer

79
Q

Intrinsic resistance to targeted therapy in oncology results from

a. Cancer genetics instability
b. Mutation in p53gene
c. Activation of the alternative genetic pathway by given therapy
d. Decrease in immunity of cancer cells

A

a. Cancer genetics instability

80
Q

PALB2 germline mutations increase the risk of

a. Colon cancer
b. Thyroid medullary cancer
c. Breast cancer
d. Brain tumors

A

c. Breast cancer

81
Q

Subsequent steps of neoplastic transformation are

a. Initiation, promotion, progression
b. Promotion, initiation, progression
c. Initiation, proliferation, progression
d. Promotion, proliferation, progression

A

a. Initiation, promotion, progression

82
Q

The presence of different clones of cancer cells within a tumor may be explained by

a. Knudson two hits hypothesis
b. Theory of oncogene addiction
c. Genetic tumor homogeneity
d. Haploinsufficiency

A

c. Genetic tumor homogeneity

83
Q

Molecular background of carcinogenesis includes

a. Inactivation of tumor suppressor genes and activation of protooncogenes
b. Activation of tumor suppressor genes and inactivation of protooncogenes
c. Inactivation of tumor suppressor genes and inactivation of protooncogenes
d. Activation of tumor suppressor genes and activation of protooncogenes

A

Inactivation of tumor suppressor genes and activation of protooncogenes

84
Q

Genes related to DNA mismatch repair have their highest expression in the

a. S phase
b. M phase
c. G1 phase
d. G0 phase

A

a. S phase

85
Q

HER2 gene amplification is an example of

a. Protooncogene activation
b. Protooncogene inactivation
c. Tumor suppressor gene activation
d. Tumor suppressor gene inactivation

A

a. Protooncogene activation

86
Q

BCR-ABL fusion gene occurs as an effect of

a. t(8;14)
b. t(9;22)
c. t(7;11)
d. 1p/19q codeletion

A

b. t(9;22)

87
Q

In MOST cases, the inheritance pattern of Fanconi anemia is

a. Autosomal dominant
b. Autosomal recessive
c. X-linked dominant
d. X-linked recessive

A

b. Autosomal recessive

88
Q

Term “genetic tumor heterogeneity” means

a. A situation when one patient suffers from two or more different cancers
b. An unequal supply of oxygen in different areas of the tumor
c. A variety in frequency of necrotic cells in different areas of the tumor
d. An existence of different clones of cancer cells within the tumor

A

d. An existence of different clones of cancer cells within the tumor

89
Q

DNA methylation is involved in

a. Intracellular signal transduction
b. Regulation of gene expression
c. Chromosome Philadelphia formation
d. Regulation of the frequency of unbalanced translocations in cancer cells

A

b. Regulation of gene expression

90
Q

Turcot syndrome belongs to a group of

a. Hereditary colon cancer syndromes
b. Hereditary breast/ovarian cancer syndromes
c. Chromosome breakage syndromes
d. Trinucleotide repeats expansion disease

A

a. Hereditary colon cancer syndromes

91
Q

The term “oncogene addiction” means

a. That the response to a therapy depends on the expression of TP53
b. That the development of cancer is related to the expression of BRCA1
c. That there is a critical oncogene mutation resulting in cell proliferation

A

c. That there is a critical oncogene mutation resulting in cell proliferation

92
Q

Extracolonic symptoms of familial adenomatous polyposis include

a. Congenital hypertrophy of the retinal pigment epithelium, jaw cysts, sebaceous cysts and osteomas
b. Increased frequency of sunlight-induced skin cancers, progressive degenerative skin and eyes changes, skin cancers
c. Lisch nodules, jaw cysts and osteomas
d. Mental retardation and dysmorphic features

A

a. Congenital hypertrophy of the retinal pigment epithelium, jaw cysts, sebaceous cysts and osteomas

93
Q

Hamartoma is

a. Mostly noncancerous, tumor-like growth consisting of a disorganized mixture of cells and tissues
b. A rare type of adrenocortical cancer
c. A hereditary skin cancer syndrome
d. A synonym for teratoma

A

a. Mostly noncancerous, tumor-like growth consisting of a disorganized mixture of cells and tissues

94
Q

Response to monoclonal anti-EGFR therapy in colorectal cancer metastases depends on the mutation status of

a. KRAS, PIK3CA, BRAF and NRAS genes
b. Mutator genes
c. BRCA1 gene
d. APC gene

A

a. KRAS, PIK3CA, BRAF and NRAS genes

95
Q

Bilateral, prophylactic mastectomy should be offered to
a. All patients diagnosed with breast cancer
b. All patients diagnosed with breast cancer before 50
c. Carriers of BRCA1/BRCA2 mutations who were diagnosed with breast
cancer
d. All carriers of BRCA1/BRCA2 pathogenic mutations

A

d. All carriers of BRCA1/BRCA2 pathogenic mutations

96
Q

Which of the following is NOT an indication for amniocentesis

a. Abnormal results of PAPP-A screen
b. Isolated neural tube defect
c. Increased foetal nuchal translucency
d. Balanced translocation in one of the parents

A

b. Isolated neural tube defect

97
Q

Maternal phenylketonuria

a. Is inherited in an autosomal recessive manner, parents of the affected child are carriers
b. Is the result of teratogenic influence of maternal hyperphenylalaninemia on the foetus
c. Is a disease that may be prevented in a child of a mother suffering from phenylketonuria
d. B and C are true

A

d. B and C are true

98
Q

Find the CORRECT combination

a. Amniocentesis – 15 to 17 weeks of gestation
b. NT measurement – 6 to 8 weeks of gestation
c. PAPP-A test – 15 to 17 weeks of gestation
d. Chorionic villus sampling – before 9th week post-LMP

A

a. Amniocentesis – 15 to 17 weeks of gestation

99
Q

Triploidy

  1. Is considered lethal
  2. May be caused by dispermia
  3. In one of the common trisomies
  4. Is an example of polyploidy
  5. May be mosaic

a. 1,2,3
b. 2,4,5
c. 1,2,4,5
d. 1,2,3,5

A

c. 1,2,4,5

100
Q

Presented pedigree meets the clinical criteria of

a. HNPCC
b. FAP
c. HBOC
d. Von Hippel-Lindau syndrome

A

a. HNPCC

101
Q

Which of the following statements is TRUE:

a. the undifferentiated primitive gonad is formed from the Wolff in males Muller canals in females.
b. The Wolff and Muller canals (ducts) develop into testes and ovaries, respectively.
c. The presence of antimullerian hormone causes the regression of the bipotential gonad.
d. Female external genitalia develop under the influence AMH
e. Male external genitalia develop under the influence of dihydrotestosterone.

A

e. Male external genitalia develop under the influence of dihydrotestosterone.

102
Q

Triple test is based on the measurement of:
PAPP-A, free-beta human chorionic gonadotropin, unconjugated estriol
Alpha-fetoprotein, PAPPA-A, free-beta human chronic gonadotropin
Alpha-fetoprotein, free-beta human chorionic gonadotropin, unconjugated estriol
Free-beta human chronic gonadotropin, unconjugated estriol, inhibin-alpha
Alpha-fetoprotein, unconjugated estriol, inhibin-alpha

A

Alpha-fetoprotein, free-beta human chorionic gonadotropin, unconjugated estriol

103
Q 
During meiosis, homologous chromosomes sometimes “stick together” and do not separate properly. This phenomenon is known as: 
gametic infertility 
sticky chiasmata 
nondisjunction
cellular sterility 
meiotic failure
A

nondisjunction

104
Q

Which of the following elements are aspects of genetic counseling:
diagnostic tests
pedigree analysis
recognition of inheritance patterns and risk assessment
support in decision making
all of the above

A

all of the above

105
Q 
A newborn with a coarctation of aorta, short neck, low neck hairline, and high palate is likely to be diagnosed with: 
down syndrome 
patau syndrome 
klinefelter syndrome 
turner syndrome 
Williams syndrome
A

turner syndrome

106
Q

Hereditary monogenic predisposition to cancer is connected with:
germinal and somatic mutation in oncogenes, suppressor or mutator genes
somatic mutation in oncogenes, suppressor or mutator genes
germinal mutation in suppressor or mutator genes
only positive family history for tumors
aggregation of tumors in the family and somatic mutation or mutator genes

A

germinal and somatic mutation in oncogenes, suppressor or mutator genes

107
Q 
Proto-oncogenes: 
are carcinogenic retroviruses 
are expressed only in malignant tissue 
control cell growth and differentiation 
inactivate tumor suppressor genes 
block RNA molecules
A

control cell growth and differentiation

108
Q 
An increased risk of brain tumors is characteristic for mutation carriers in the following genes: 
NF1, P53 
BRCA1, BRCA2 
APC, MLH1 
MGMT3, APC 
A and C are correct
A

A and C are correct

109
Q 
Lissencephaly is common in: 
prader willi syndrome 
angelman syndrome 
miller dieker syndrome 
smith magenis syndrome 
Williams syndrome
A

miller dieker syndrome

110
Q

Fetal alcohol syndrome may be caused by:
fertilization under the influence of alcohol
alcoholism in father
insufficiency of alcohol hydroxylase
alcoholism in the mother, staying sober before and during the pregnancy
alcohol intake by pregnant woman

A

alcohol intake by pregnant woman

111
Q 
FAP is caused my mutation in: 
MSH2 
RET 
BRCA2 
NF2 
APC
A

APC

112
Q

Which of the following statements about retinoblastoma is FALSE:
the initial symptom is often strabismus
RB2 is a tumor suppressor gene
Bilateral and multifocal lesions indicate a sporadic tumor rather than a hereditary form of retinoblastoma
Mutations in RB1 have a nearly 90% penetrance
Mutations in RB1 increase the risk of osteosarcoma

A

Bilateral and multifocal lesions indicate a sporadic tumor rather than a hereditary form of retinoblastoma

113
Q 
Translocation (9;22) is specific for: 
osteosarcoma 
soft tissue sarcoma 
chronic myeloid leukemia 
burkitt lymphoma 
none of the above
A

chronic myeloid leukemia

114
Q 
Mitochondrial disorders are caused by mutations: 
in mitochondrial DNA 
in nuclear DNA 
dunamic 
A and B are true 
A, B, C are true
A

A and B are true

115
Q 
The abbreviation HSR stands for:  
hight-stain resolution chromosomes 
homogenerously staining region 
homogenic strand region 
heavy strand reaction 
homologic sister region
A

homogenerously staining region

116
Q

Malignancies are associated with LiFraument syndrome include:
breast cancer, soft tissue sarcoma, brain tumors
skin cancer, colorectal polyposis, breast cancer
lung cancer, osteosarcoma, leukemia
lymphoma, soft tissue sarcoma, ovarian cancer
ovarian cancer, colorectal polyposis, soft tissue sarcomas

A

breast cancer, soft tissue sarcoma, brain tumors

117
Q

Turcot syndrome:
is a 12q tetrasomy syndrome
is one of the syndromes cause by expansion of trinucleotide repeats
is an example of chromosome breakage syndromes
is a colorectal cancer predisposition syndrome
is a breast cancer polyposis syndrome

A

is a colorectal cancer predisposition syndrome

118
Q

High penetrance genes involved in the neoplastic transformation include:
proto-oncogenes, tumor suppressor genes, mismatch repair genes
prion genes, proto-oncogenes, tumor suppressor genes
proto-oncogenes, tumor suppressor genes, bas excision repair genes
proto-oncogenes, tumor suppressor genes, nucleotide-excision genes
proto-oncogenes, tumor suppressor genes, nucleotide-excision and excision repair genes

A

proto-oncogenes, tumor suppressor genes, mismatch repair genes

119
Q

Typical features for Williams syndrome include:
kidney anomaly, narrow mouth, round nasal tip
SVAS, short stature, wide mouth
Kidney anomaly (no typical defect), normal stature, intellectual disability
AVSD, short stature, wide mouth
Kidney or heart anomaly, normal stature, talkativeness

A

SVAS, short stature, wide mouth

120
Q

Spinal muscular atrophy is characterized by the occurrence of:
subtypes classified by the age of onset and the severity of clinical symptoms
simultaneous mutation in SMN1 (SMN2 is irrelevant for the course of SMA)
intellectual disability
mutations in SMN1 (SMN2 is irrelevant for the course of SMA)
none of the above

A

subtypes classified by the age of onset and the severity of clinical symptoms

121
Q

Partial androgen insensitivity syndrome (PAIS) may present with:
predominantly female external genitalia
predominantly male external genitalia
ambiguous external genitalia
all of the above
none, PAIS does not cause abnormalities in external genitalia

A

all of the above

122
Q

Achondroplasia is a genetic disorder with:
incomplete penetrance
full penetrance
variable expressivity and incomplete penetrance
complex, heterogeneous molecular background
is caused by an microdeletion in chromosome 3

A

full penetrance

123
Q 
all of the following are directly involved in translation EXCEPT: 
mRNA 
tRNA 
promoter 
methionine 
ribosome
A

promoter

124
Q

Which statement about prenatal diagnosis is FALSE:
PAPPA test is a screening method
Increased NT measurements in diagnostic of chromosomal aberration in the fetus
Prenatal diagnosis of some skeletal dysplasia can be made through ultrasonography
Amniotic fluid AFP level is increased in cases of fetal NTD
CVS is an invasive method of diagnosis

A

Increased NT measurements in diagnostic of chromosomal aberration in the fetus

125
Q

Which malignancies apart from colorectal cancer, may occur in HNPCC?
breast, ovary, skin and stomach cancer
stomach, small intestine, endometrium cancers
ureter, ovary, lung, biliary duct cancers
pancreas, breast, skin and cervix cancers
brain, cervix, ovary, small intestine

A

stomach, small intestine, endometrium cancers

126
Q

According to Knudson theory:
first mutation is somatic, the second mutation is constitutional
both mutations are constitutional
first mutation is constitutional, second mutation is somatic
one mutation is enough to activate the gene
one mutation is enough to inactivate the gene

A

first mutation is constitutional, second mutation is somatic

127
Q

Mismatch repair genes encode proteins that:
stimulate proliferation
control the correct pairing of bases
control the chromosome stability of the cell
all of the above are true
none of the above is true

A

control the correct pairing of bases

128
Q

Which of the following statements about neurofibromatosis type I is FALSE:
it is inherited as an autosomal dominant trait
the NF1 tumor suppressor gene is located at 17q 11.2
in about 50% of the affected individuals the mutation arises de novo
it is characterized by nearly 100% penetrance and variable expressivity
it increases the risk of acute myeloid leukemia

A

it increases the risk of acute myeloid leukemia

129
Q 
Which of the following is not typical for marfan syndrome? 
Hyperplastic skin
Lens subluxation
Aortic aneurysm 
Joint hypermobility 
Pneumothorax
A

Hyperplastic skin

130
Q

Mutation in one allele of the HTT gene causes:
X linked intellectual disability
Alzheimer disease
Huntingtons disease
No symptoms as this mutation is inherited in an autosomal recessive manner
Ostrogenesis imperfect

A

Huntingtons disease

131
Q 
A women with sickle cell anemia has married a mutation carrier. What is the couples risk of having an affected child? 
33.5% 
25% 
50%
75% 
100%
A

50%

132
Q

The following statements concerning cystic fibrosis are true EXCEPT:
clinical symptoms include: chronic cough, pancreatic insufficiency which results in malabsorption of fatty stools
a sweat chloride test is commonly performed at the time of diagnosis
the major cause of mortality is end stage pulmonary disease
something ileum may be the first symptom
it is inherited in an autosomal dominant manner

A

it is inherited in an autosomal dominant manner

133
Q

Which symptoms are typical for alkaptenuria?

a. presence of homogenetic acid in urine
b. dark deposits in cartilage tissue
c. darkening of urine exposed to open air
d. osteoarthritis

  1. a b c d
  2. a b c
  3. b c
  4. c d
A
  1. a b c d
134
Q

A women whose son and brother have Duchene muscle dystrophy :
is an obligatory mutation carrier
is not a mutation carrier
there is a 25% risk that the woman is a mutation carrier
there is 50% risk that the woman is a mutation carrier
there is a 75% risk that the woman is a mutation carrier

A

is an obligatory mutation carrier

135
Q 
The following genetic disorder is inherited as x-linked recessive: 
haemophilia A 
achondroplasia 
spinal muscular atrophy 
cystic fibrosis 
haemochromatosis
A

haemophilia A

136
Q 
Intellectual disability,  tall stature,  
mutation in FMR1 gene
a mutation in HTT UT 13 gene 
an additional x chromosomes in a male
martial disomy of reg region 
partial disomy of reg region
A

mutation in FMR1 gene (Fragile X syndrome)

137
Q

Haploinsufficiency:
results form the expansion of trinucleotide repeats
is one of the mechanisms of tumor suppressor gene actions
is one of the mechanism of oncogene action
all the above are true
none are true

A

is one of the mechanisms of tumor suppressor gene actions

138
Q

Find the CORRECT combination
aminocentesis- 15 to 17 weeks of gestation
NT measurement- 6 to 8 weeks of gestation
PAPPA test- 15 to 17 weeks of gestation
Triple screen- 11 to 13 +6 days week of gestation
Chorionic villus sampling- before 9th week post LMP

A

aminocentesis- 15 to 17 weeks of gestation

139
Q

The following is a correct definition of a descriptive term used in dysmorphology
clinodactyly means small hands
hypertelorism means increased distance between the ears
brachycephaly means flat forehead
anencephaly means partial or complete absence of cranial vault and hemispheres
arachnodactyly means “spider hair”

A

anencephaly means partial or complete absence of cranial vault and hemispheres

140
Q

Extracolonic features in FAP include:
congenital hypertrophy of the pigment epithelium/jaw cysts and other lesions
“butterfly-like” rash on the face/keratoacanthosis
lisch nodules/jaw cysts and other lesions
congenital hypertrophy of the pigment epithelium/lisch nodules
all of the above

A

congenital hypertrophy of the pigment epithelium/jaw cysts and other lesions

141
Q

The Barr body is formed because of:
abnormalities in methylation process
formation of bivalent by chromosome x
inactivation of one of the two chromosomes x
disturbances in sex determination process
activation of SRY gene

A

inactivation of one of the two chromosomes x

142
Q

Which of the following statements about retinoblastoma is FALSE:
the initial symptom is often strabismus
RB1 is a tumor suppressor gene
Bilateral and multifocal lesions indicate a sporadic tumor rather a hereditary form of retinoblastoma

A

Bilateral and multifocal lesions indicate a sporadic tumor rather a hereditary form of retinoblastoma

143
Q 
According to the internation system for human cytogenic (ISCN) the aberration “r” means. 
isochromosome 
reciprocal 
ring chromosome 
rearrangement 
satellite
A

ring chromosome

144
Q 
Karyotype 48, XXX, +21 is an example of: 
nullisomy 
triploidy 
tetrasomy 
double trisomy 
double monosomy
A

double trisomy

145
Q 
A syringe for blood sampling used for cytogenic analysis would contact: 
EDTA 
Nitrite citrate 
Heparin 
Nothing, no anticoagulant 
Sodium fluoride
A

Heparin

146
Q 
Colcemide added to cell culture is necessary to: 
halt cellular division 
halt gametogenesis 
prevent the cytokinesis 
answers A and C are correct 
there is no correct answer
A

answers A and C are correct

147
Q 
What laboratory test should be chosen for diagnosing DiGeorge syndrome: 
GTG banding 
FISH 
PCR 
CBG banding 
Ag-NOR staining
A

FISH

148
Q 
What laboratory test should be chosen for diagnosing Turner syndrome:  
GTG banding 
Southern blot analysis 
PCR 
CBG banding 
Ag-NOR staining
A

GTG banding

149
Q

FISH is NOT applicable in:
diagnosis of microdeletion syndromes
identification of structural chromosome aberration
identification of small deletions or amplification
rapid prenatal diagnosis of aneuploidy
identification of single exon deletions

A

identification of single exon deletions

150
Q 
MLPA technique is NOT: 
a screening method 
based on ligation process 
a quantitative method 
dedicated to  diagnosing missence mutation 
a fluorescent method
A

dedicated to diagnosing missence mutation

151
Q 
In a newborn with large birth weight, hypoglycaemian and hemihypertrophy most probable clinical diagnosis: 
smith-lemli-opitz syndrome 
prader willi syndrome 
angelman syndrome 
wolf hirschorn syndrome 
beckwith wiedemann syndrome
A

beckwith wiedemann syndrome

152
Q 
Facial dysmorphia, cardiovascular defects, immune deficiency, hypoparathyroidism are typical for:
wolf-hirschorn syndrome 
cri du chat syndrome 
Williams syndrome 
Digeorge syndrome
Miller diker syndrome
A

Digeorge syndrome

153
Q

Which syndrome is NOT cause by a microdeletion:

  1. Williams syndrome
  2. Prader willi syndrome
  3. 46,X,del (X) (p12)
  4. 46,X,del (15) (q23.2)
  5. angelman syndrome
  6. DiGeorge syndrome
  7. Miller dieker syndrome

a. 3 4 7
b. 1 3 4 7
c. 3 4
d. 1 3 4 6
e. 2 4 3 7

A

c. 3 4

154
Q

The following is TRUE about Smith-Lemli Opitz syndrome
the disease is caused by 7-dehydrocholesterol reductase deficiency
7-dehydrocholesterol serum levels are elevated
cholesterol serum levels are decreased
7-dehydrocholesterol urine levels are elevated
all sentences above are true

A

all sentences above are true

155
Q

The following are the most typical faciocranial defects seen in Patau syndrome:
macrocephaly, cleft palate, hypotelorism
macrocephaly, cleft lip and palate, microphthalmia
microcephaly, cleft lip and palate, microphthalmia
microcephaly, cleft lifp, hupertelorism
plagiocephaly, cleft lip and palate, microphthalmia

A

microcephaly, cleft lip and palate, microphthalmia

156
Q

Triploidy may be caused by:
nondisjunction of a pair of chromosomes in meiotic division of a sperm
nondisjunction of a pair of chromosomes mitotic divisions of an embryo
nondisjunction of a pair of chromosomes in post fertilization mitotic division
meiotic failure of a sperm or egg cell
none is true

A

meiotic failure of a sperm or egg cell

157
Q

Following the birth of a child with 47, XX, +18 karyotype the family should be offered
cytogenic analysis for each parent
cytogenic analysis for sibling of the child
invasive prenatal diagnostics for the mother in each subsequent pregnancy
invasive prenatal diagnostics for the mother, but only over the age 35
cytogenetic analysis for the parents and invasive prenatal diagnostics for the mother in each subsequent pregnancy

A

cytogenetic analysis for the parents and invasive prenatal diagnostics for the mother in each subsequent pregnancy

158
Q

Which of the following statements about proto-oncogenes is FALSE.
proto oncogenes are represented by an alleles in somatic cells
proto oncogenes regulate cell growth
proto oncogenes regulate cell differentiation
mutations in proto oncogenes have a recessive character
mutations in proto oncogenes may initiate carcinogenesis

A

mutations in proto oncogenes have a recessive character

159
Q

Tumorogenesis in humans is characterized by:
rapid progression
typical symptoms such as pain/bleeding/cachexia are present in the initial stages of the disease
slow progression that lasts for years
inhibition of cell prolifereation
inhabitation of DNA replication

A

slow progression that lasts for years

160
Q

Microsatellite instability refers to:
chromosomal amplifications and deletions
point mutations
change in length of short, repeated sequences
change in sixe of short arms of acrocentric chromosomes
none of the above

A

change in length of short, repeated sequences

161
Q 
Epigenetic silencing of a gene is frequently initiated at: 
promoter region 
translation start site 
first inrton of a gene 
last intron of a gene 
last exon of a gene
A

translation start site

162
Q

Histone code refers to:
specific modifications of amino acids in histone tails
amino acid changes in histone body
specific amino acid sequence of histones
DNA sequence associated with nucleosome
Changes in DNA methylation

A

specific modifications of amino acids in histone tails

163
Q

Silent mutation refers to change in DNA sequence that:
escapes recognition by DNA repair systems
significantly alter the phenotype of the organism
silences gene expression
has minimal impact on phenotype of an organism
silences protein expression by introduction and STOP codon

A

has minimal impact on phenotype of an organism

164
Q

Which of the following regarding genemoic imprinting is TRUE:
it involves an irreversable aberration in the DNA sequence of imprinting
gender of the parent from whom an allele is inherited affects the expression of the allele
The process of imprinting during fertilization is entirely random
Imprinting involves genes that are located only at chromosome 15
None of the above

A

gender of the parent from whom an allele is inherited affects the expression of the allele

165
Q 
Genomic instability in cancer refers to: 
point mutations 
chromosomal instability 
microsatellite instability 
all of the above 
answer A and B are correct
A

chromosomal instability

166
Q 
Which features are inherited as a multifactorial trait: 
intelligence 
diabetes mellitus 
achondroplasia 
all of the above 
answers A and B are correct
A

answers A and B are correct

167
Q

Neural tube defects:
have an incidence of about 1 per 1000 live births
affect females more frequently than males
can be lethal before birth of shortly after
can be accompanied by café au lait spots
all of the above

A

all of the above

168
Q 
Spina bifida is caused by defect in closure of neural tube during embryogenesis in what week: 
1-2 wk 
3-4 wk
6-7 wk
3-4 month
6 month
A

3-4 wk

169
Q

Choose the correct description (according to ISCN) of balanced
Robertsonian translocation in a female patient:
46,XX,rob(13;21)(q10;q10)
46,XX,rob(13;21)(q10;q10), +21
45,XX,der(13;21)(q10;q10)
45,XX,rob(13;21)(q10;q10), +21
45,XX,t(13;21)(q10;q10)

A

45,XX,der(13;21)(q10;q10)

170
Q 
Which of the following is NOT a dysmorphic feature: 
synophrys 
brushfield spots 
narrow palebral fissure 
short philtrum 
normocephaly
A

normocephaly

171
Q

The following is a correct definition of a descriptive term used in dysmorphology: (repeated question)
clinodactyly means small hands
hypertelorism means increased distance between the ears
brachycephaly means flat forehead
anencephaly means partial or complete absence of cranial vault and hermispheres
achondactyly means “spider hair”

A

anencephaly means partial or complete absence of cranial vault and hermispheres

172
Q

According to the pathogeneic classification the most common anomalies among live-born infants are:
major malformations (congenital heart defects, kidney defects)
minor congenital anomalies (preauricular tags, two hair whorls on head)
syndromes (down syndrome, Edwards syndrome)
sequences (neural tube defect sequence)
associations (VATER association)

A

sequences (neural tube defect sequence) (??)

173
Q

Who should you refer to a clinical geneticist:
a young couple with primary infertility
a child with dysmorphic features and behavioral problems
a woman with breast cancer and family history of this malignancy
a man with oligoblasteremia
all the above

A

all the above

174
Q

What serum levels of LH, FSH, and testosterone would you expect in a 47, XXY karyotype:
increased LH and FSH levels and decreased testosterone levels
decreased LH and FSH levels and decreased testosterone levels
increased LH and FSH levels and increased testosterone levels
decreased LH and FSH levels and increased testosterone levels
normal LH and FSH levels together with decreased testosterone levels

A

increased LH and FSH levels and decreased testosterone levels

175
Q 
The following features characterize autosomal dominant inheritance: 
variable expression 
incomplete penetration 
asymptomatic carrier status 
answers A and C are correct 
answers A, B, C are correct
A

variable expression

176
Q

Which of the following is NOT true for neurofibromatosis type 1 (NF1)
the diagnosis of FN1 is made on clinical criteria
there is intrafamilial variability in phenotypic expression
the penetrance is nearly 100%
mutations causing the disorder may arise de novo
the confirmation of the disorder can only be made through ….testing

A

the confirmation of the disorder can only be made through ….testing

177
Q

Achondroplasia is a genetic disorder with:
incomplete penetrance
full penetrance
variable expressivity and incomplete penetrance

A

full penetrance

178
Q 
Generalized hypotonia with onset in the first two months of the…something. Reflexes, severe motor disability with muscle atrophy are typical for what syndrome: 
duchenne muscular dystrophy 
Werdig-hoffmann disease 
Fragile x-sundrome 
Kugelberg wellander disease
Phenylketonuria
A

Werdig-hoffmann disease

179
Q

aCGH is:

A. array comparative genomic hybridization

B. a method used for diagnosing unbalanced aberrations

C. a method used for diagnosing all types of aberrations

D. answers A and B are correct

E. answers A and C are correct

A

D. answers A and B are correct

180
Q

Tumorgenesis in humans is characterized by:

A. rapid progression
B. typical symptoms such as pain/bleeding, cachexia are present in the initial stages of the disease
C. slow progression that lasts for years
D. inhibition of cell proliferation
E. inhibition of DNA replication


A

C. slow progression that lasts for years

181
Q 
Congenital defects caused by genetic and environmental factors involve the following, EXCEPT:

A. cleft lip and palate

B. club foot

C. Neurofibromatosis type 1

D. Hirschsprung disease

E. pyloric stenosis
A

C. Neurofibromatosis type 1

182
Q

The child with Down syndrome:

A. has a 10-20% times higher risk of leukemia than the “normal” population

B. has a 10% chance of congenitial heart disease

C. will have an IQ over 80

D. will be infertile regardless of gender
E. is more likely to have an elderly father


A

A. has a 10-20% times higher risk of leukemia than the “normal” population

183
Q

Clinically, the most important ……. Of Klinefelter syndrome is:

A. tall stature
B. infertility

C. lack of facial and body hair

A

B. infertility

184
Q 
Which diagnosis is the most probable in a 19-year-old boy with muscle weakness, difficulties in running and climbing stairs, elevated CPK serum levels and primary myopathic electromyography (EMG)?

A. Becker’s muscular dystrophy

B. Spinal muscular dystrophy

C. Fragile X syndrome

D. Duchenne muscular dystrophy

E. Juvenile Huntington’s disease
A

A. Becker’s muscular dystrophy

185
Q

Which sentence about RETT syndrome is FALSE?

A. the disease is almost always sporadic, caused by de novo MECP2 mutation
B. the main clinical symptom include: ……. Development, stereotypical hand movements and … cephaly

C. the phenotype does not include any typical facial dysmorphic features

D. there is no cure at the moment

E. both males and females may be affected

A

E. both males and females may be affected

186
Q

Which statement is FALSE?
A. a gene encoding androgen receptor is located on chromosome X

B. congential adrenal hyperplasia (CAH) is inherited as .. traist

C. mutations in SRY gene could be responsible for sex reversal

D. sex chromosome aberration are usually responsible for ambiguous genetalia

E. lack of something-aplha reductase is responsible for the absence of …. During fetal period

A

D. sex chromosome aberration are usually responsible for ambiguous genetalia

187
Q

In an individual with complete androgen insensitivity syndrome you expect the presence of:

A. ambiguous genitalia

B. the uterus and fallopian tubes

C. testes in the abdominal cave
D. epididymis, vas deferens, seminal vesicles
E. normally developed male genitalia

A

C. testes in the abdominal cave

Year 4 Exams (11 decks)

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