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
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
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
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
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
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
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
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
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
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
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
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
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
14
Q
Ultrasonographic features of Down syndrome in fetus are
- Increased size of nuchal translucency
- Decreased size of nuchal translucency
- Increase ossification of nose bone
- Decrease ossification of nose bone
- Shortened femur
- Bifid uvula
a. 1,4,5
b. 1,3,6
c. 1,3,5,6
d. 2,4,5
A
a. 1,4,5
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
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
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
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
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
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
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
22
Q
Karyotype 48, XXX, +21 is an example of
a. Nullisomy
b. Double trisomy
c. Triploidy
d. Tetrasomy
A
b. Double trisomy
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
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
25
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
d. Have cognitive function is within normal range
26
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. XX chromosome / uterus / ovaries
27
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
c. Congenital absence of vas deferens
28
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
c. FAP, hereditary retinoblastoma, Li-Fraumeni syndrome
29
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. Malformation
30
What determines which DNA fragment you amplify during PCR
a. DNA polymerase
b. Nucleotides
c. Restriction enzyme
d. Primers
d. Primers
31
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 chemical modification of a nucleotide
32
Indicate a high resolution, genome-wide method to study chromosomal aberration
a. PCR
b. Sequencing
c. PCR-RFLP
d. Array CGH
d. Array CGH
33
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. DNA mutation repair
34
DNA methylation influences
a. DNA replication
b. Splicing
c. Protein folding
d. Chromatin compaction
d. Chromatin compaction
35
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
c. Serum FSH is high in puberty
36
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
b. Males with an FMR1 premutation are called normal transmitting males
37
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
c. The main symptoms of Angelman syndrome include a heart defect and thymus hypoplasia
38
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. HD is caused by point mutation in the HTT gene localized on the short arm of chromosome 4
39
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
d. The risk of having another affected child by SMA is 25%, assuming the parents are carries
40
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
c. Genetic testing of hereditary cancer predisposition syndromes should never be initiated before age of 18 years
41
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)
b. 46, XX, t (7,15)(q12,;q34)
42
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)
b. 46, XX, inv(9)(p12q13)
43
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)
c. 46, XX, add(8)(p23)
44
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
c. Ring chromosome
45
Karyotype, 69,XXY is an example of
a. Triploidy
b. Tetrasomy
c. Double trisomy
d. Tetraploidy
a. Triploidy
46
A test-tube for blood sampling for molecular analysis should contain
a. EDTA
b. Colcemide
c. Heparin
d. Nothing, no anticoagulant
c. Heparin
47
What laboratory test could confirm the diagnosis of Williams syndrome
a. GTG banding
b. FISH
c. aCGH
d. B and C are correct
d. B and C are correct
48
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. GTG banding
49
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
b. check for unbalanced chromosomal aberrations
50
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
d. All of the above answers are correct
51
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
d. 1,4
52
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
c. Smith-Magenis syndrome
53
Short stature does not appear in
a. Turner syndrome
b. Prader-Willi syndrome
c. Beckwith-Wiedemann syndrome
d. Achondroplasia
c. Beckwith-Wiedemann syndrome
54
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. 1,2,3
55
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
c. Patau syndrome
56
FAP is caused by mutations in
a. MSH2
b. RET
c. TPS3
d. APC
d. APC
57
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
c. first hit change is inherited, second hit change is acquired
58
“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
b. Small, circular fragments of extrachromosomal DNA harboring amplified oncogenes
59
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
c. 1,2,3,4,6
60
Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy are
a. NER syndromes
b. BER syndromes
c. MMR syndromes
d. HRR syndromes
a. NER syndromes
61
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
d. Chromosome 7 and 14
62
RB1 is a
a. Protooncogene
b. Mismatch repair gene
c. Tumor suppressor gene
d. Mitochondrial gene
c. Tumor suppressor gene
63
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
b. Bloom syndrome
64
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. Fanconi anemia
65
Leukocoria and strabismus are often the first symptoms of
a. Wilms tumor
b. Neurofibromatosis type 2
c. Retinoblastoma
d. Bloom syndrome
c. Retinoblastoma
66
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. WAGR, Beckwith-Wiedemann, Denys-Drash syndrome, Perlman syndromes
67
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
d. Meet the Chompret criteria
68
Lisch nodules in patients with NF1 are
a. Optic nerve gliomas
b. Iris copper deposits
c. Iris hamartomas
d. Optic nerve neurofibromas
c. Iris hamartomas
69
Bilateral vestibular schwannomas are suggestive for
a. MEN1
b. MEN2A
c. Neurofibromatosis type 1
d. Neurofibromatosis type 2
d. Neurofibromatosis type 2
70
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
b. Medullary thyroid cancer and pheochromocytoma
71
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. BRCA1 mutations
72
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
d. All carriers with BRCA1/BRCA2 pathogenic mutations
73
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
c. The presence of TP53 mutation is critical for personalized therapy
74
Somatic del(1p) and del(19q) are characteristic for
a. Primary glioblastoma
b. Meningioma
c. Ependymoma
d. Oligodendroglioma
d. Oligodendroglioma
75
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. Wilms tumor, Aniridia, Genitourinary abnormalities, Retardation of psychomotor development
76
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
c. A breast cancer with no cell surface receptors for estrogen, progesterone and HER2
77
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
b. Establish the prognosis about the course of a disease
78
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
c. Non-small cell lung cancer
79
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. Cancer genetics instability
80
PALB2 germline mutations increase the risk of
a. Colon cancer
b. Thyroid medullary cancer
c. Breast cancer
d. Brain tumors
c. Breast cancer
81
Subsequent steps of neoplastic transformation are
a. Initiation, promotion, progression
b. Promotion, initiation, progression
c. Initiation, proliferation, progression
d. Promotion, proliferation, progression
a. Initiation, promotion, progression
82
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
c. Genetic tumor homogeneity
83
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
Inactivation of tumor suppressor genes and activation of protooncogenes
84
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. S phase
85
HER2 gene amplification is an example of
a. Protooncogene activation
b. Protooncogene inactivation
c. Tumor suppressor gene activation
d. Tumor suppressor gene inactivation
a. Protooncogene activation
86
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
b. t(9;22)
87
In MOST cases, the inheritance pattern of Fanconi anemia is
a. Autosomal dominant
b. Autosomal recessive
c. X-linked dominant
d. X-linked recessive
b. Autosomal recessive
88
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
d. An existence of different clones of cancer cells within the tumor
89
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
b. Regulation of gene expression
90
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. Hereditary colon cancer syndromes
91
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
c. That there is a critical oncogene mutation resulting in cell proliferation
92
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. Congenital hypertrophy of the retinal pigment epithelium, jaw cysts, sebaceous cysts and osteomas
93
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. Mostly noncancerous, tumor-like growth consisting of a disorganized mixture of cells and tissues
94
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. KRAS, PIK3CA, BRAF and NRAS genes
95
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
d. All carriers of BRCA1/BRCA2 pathogenic mutations
96
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
b. Isolated neural tube defect
97
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
d. B and C are true
98
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. Amniocentesis – 15 to 17 weeks of gestation
99
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
c. 1,2,4,5
100
Presented pedigree meets the clinical criteria of
a. HNPCC
b. FAP
c. HBOC
d. Von Hippel-Lindau syndrome
a. HNPCC
101
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.
e. Male external genitalia develop under the influence of dihydrotestosterone.
102
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
Alpha-fetoprotein, free-beta human chorionic gonadotropin, unconjugated estriol
103
```
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
```
nondisjunction
104
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
all of the above
105
```
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
```
turner syndrome
106
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
germinal and somatic mutation in oncogenes, suppressor or mutator genes
107
```
Proto-oncogenes:
are carcinogenic retroviruses
are expressed only in malignant tissue
control cell growth and differentiation
inactivate tumor suppressor genes
block RNA molecules
```
control cell growth and differentiation
108
```
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 and C are correct
109
```
Lissencephaly is common in:
prader willi syndrome
angelman syndrome
miller dieker syndrome
smith magenis syndrome
Williams syndrome
```
miller dieker syndrome
110
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
alcohol intake by pregnant woman
111
```
FAP is caused my mutation in:
MSH2
RET
BRCA2
NF2
APC
```
APC
112
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
Bilateral and multifocal lesions indicate a sporadic tumor rather than a hereditary form of retinoblastoma
113
```
Translocation (9;22) is specific for:
osteosarcoma
soft tissue sarcoma
chronic myeloid leukemia
burkitt lymphoma
none of the above
```
chronic myeloid leukemia
114
```
Mitochondrial disorders are caused by mutations:
in mitochondrial DNA
in nuclear DNA
dunamic
A and B are true
A, B, C are true
```
A and B are true
115
```
The abbreviation HSR stands for:
hight-stain resolution chromosomes
homogenerously staining region
homogenic strand region
heavy strand reaction
homologic sister region
```
homogenerously staining region
116
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
breast cancer, soft tissue sarcoma, brain tumors
117
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
is a colorectal cancer predisposition syndrome
118
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
proto-oncogenes, tumor suppressor genes, mismatch repair genes
119
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
SVAS, short stature, wide mouth
120
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
subtypes classified by the age of onset and the severity of clinical symptoms
121
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
all of the above
122
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
full penetrance
123
```
all of the following are directly involved in translation EXCEPT:
mRNA
tRNA
promoter
methionine
ribosome
```
promoter
124
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
Increased NT measurements in diagnostic of chromosomal aberration in the fetus
125
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
stomach, small intestine, endometrium cancers
126
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
first mutation is constitutional, second mutation is somatic
127
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
control the correct pairing of bases
128
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
it increases the risk of acute myeloid leukemia
129
```
Which of the following is not typical for marfan syndrome?
Hyperplastic skin
Lens subluxation
Aortic aneurysm
Joint hypermobility
Pneumothorax
```
Hyperplastic skin
130
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
Huntingtons disease
131
```
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%
```
50%
132
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
it is inherited in an autosomal dominant manner
133
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
1. a b c d
134
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
is an obligatory mutation carrier
135
```
The following genetic disorder is inherited as x-linked recessive:
haemophilia A
achondroplasia
spinal muscular atrophy
cystic fibrosis
haemochromatosis
```
haemophilia A
136
```
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
```
mutation in FMR1 gene (Fragile X syndrome)
137
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
is one of the mechanisms of tumor suppressor gene actions
138
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
aminocentesis- 15 to 17 weeks of gestation
139
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”
anencephaly means partial or complete absence of cranial vault and hemispheres
140
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
congenital hypertrophy of the pigment epithelium/jaw cysts and other lesions
141
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
inactivation of one of the two chromosomes x
142
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
Bilateral and multifocal lesions indicate a sporadic tumor rather a hereditary form of retinoblastoma
143
```
According to the internation system for human cytogenic (ISCN) the aberration “r” means.
isochromosome
reciprocal
ring chromosome
rearrangement
satellite
```
ring chromosome
144
```
Karyotype 48, XXX, +21 is an example of:
nullisomy
triploidy
tetrasomy
double trisomy
double monosomy
```
double trisomy
145
```
A syringe for blood sampling used for cytogenic analysis would contact:
EDTA
Nitrite citrate
Heparin
Nothing, no anticoagulant
Sodium fluoride
```
Heparin
146
```
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
```
answers A and C are correct
147
```
What laboratory test should be chosen for diagnosing DiGeorge syndrome:
GTG banding
FISH
PCR
CBG banding
Ag-NOR staining
```
FISH
148
```
What laboratory test should be chosen for diagnosing Turner syndrome:
GTG banding
Southern blot analysis
PCR
CBG banding
Ag-NOR staining
```
GTG banding
149
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
identification of single exon deletions
150
```
MLPA technique is NOT:
a screening method
based on ligation process
a quantitative method
dedicated to diagnosing missence mutation
a fluorescent method
```
dedicated to diagnosing missence mutation
151
```
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
```
beckwith wiedemann syndrome
152
```
Facial dysmorphia, cardiovascular defects, immune deficiency, hypoparathyroidism are typical for:
wolf-hirschorn syndrome
cri du chat syndrome
Williams syndrome
Digeorge syndrome
Miller diker syndrome
```
Digeorge syndrome
153
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
c. 3 4
154
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
all sentences above are true
155
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
microcephaly, cleft lip and palate, microphthalmia
156
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
meiotic failure of a sperm or egg cell
157
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
cytogenetic analysis for the parents and invasive prenatal diagnostics for the mother in each subsequent pregnancy
158
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
mutations in proto oncogenes have a recessive character
159
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
slow progression that lasts for years
160
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
change in length of short, repeated sequences
161
```
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
```
translation start site
162
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
specific modifications of amino acids in histone tails
163
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
has minimal impact on phenotype of an organism
164
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
gender of the parent from whom an allele is inherited affects the expression of the allele
165
```
Genomic instability in cancer refers to:
point mutations
chromosomal instability
microsatellite instability
all of the above
answer A and B are correct
```
chromosomal instability
166
```
Which features are inherited as a multifactorial trait:
intelligence
diabetes mellitus
achondroplasia
all of the above
answers A and B are correct
```
answers A and B are correct
167
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
all of the above
168
```
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
```
3-4 wk
169
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)
45,XX,der(13;21)(q10;q10)
170
```
Which of the following is NOT a dysmorphic feature:
synophrys
brushfield spots
narrow palebral fissure
short philtrum
normocephaly
```
normocephaly
171
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”
anencephaly means partial or complete absence of cranial vault and hermispheres
172
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)
sequences (neural tube defect sequence) (??)
173
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
all the above
174
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
increased LH and FSH levels and decreased testosterone levels
175
```
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
```
variable expression
176
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
the confirmation of the disorder can only be made through ….testing
177
Achondroplasia is a genetic disorder with:
incomplete penetrance
full penetrance
variable expressivity and incomplete penetrance
full penetrance
178
```
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
```
Werdig-hoffmann disease
179
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
D. answers A and B are correct
180
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
C. slow progression that lasts for years
181
```
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
```
C. Neurofibromatosis type 1
182
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. has a 10-20% times higher risk of leukemia than the “normal” population
183
Clinically, the most important ……. Of Klinefelter syndrome is:
A. tall stature
B. infertility
C. lack of facial and body hair
B. infertility
184
```
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. Becker’s muscular dystrophy
185
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
E. both males and females may be affected
186
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
D. sex chromosome aberration are usually responsible for ambiguous genetalia
187
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
C. testes in the abdominal cave
