Clinical Genetics 2022 Flashcards
The use of a whole chromosome painting probe in FISH test does not allow to detect a:
A. trisomy
B. microdeletion
C. insertion
D. monosomy
Anki:
not sure: either microdeletion or insertion –> probably micro??
(bc often of insufficient complexity to detect subtle chromosomal changes)
The following are the most typical anomalies seen in Patau syndrome:
A. hypertelorism, cleft palate, polydacyly
B. macrocephaly, cleft lip and palate, microphthalmia
C. cutis aplasia, cleft lip and palate, microphthalmia
D. polydactyly, cleft lip, macrocephaly
Anki:
cutis aplasia, cleft lip and palate, microphthalmia
(bc microcephaly)
The 7q11.23 imbalance containing the ELN gene, presented in the picture, can be interpreted as:
A. DiGeorge syndrome
B. Williams syndrome
C. Smith-Magenis syndrome
D. Angelman syndrome
Williams syndrome
Extra:
DiGeorge Chr. 22
Smith-Magenis Chr. 17
Angelman Chr. 15
Spinal muscular atrophy is characterized by the occurrence of:
A. subtypes classified by the age of onset and the severity of clinical symptoms
B. simultaneous mutations in SMV1 and SMN2 genes
C. intellectual disability
D. mutations in SMN2 gene
subtypes classified by the age of onset and the severity of clinical symptoms
Cardinal features of Marfan syndrome include:
A. cataract and scoliosis
B. ectopia lentis and coarctation of aorta
C. aortic root enlargement and myopia
D. glaucoma and joint laxity
Anki:
Most likely C
old question says ectopia lentis and aortic root enlargement…
myopia is also present
Generalised hypotonia with feeding difficulties that present in the first weeks of life are suggestive of:
A. Turner syndrome
B. Williams syndrome
C. Beckwith-Wiedmann syndrome
D. Prader-Willi syndrome
Anki:
Prader-Willi syndrome
You are asked to consult a newborn baby on the Neonatal Ward. She was born at 38 weeks of gestation via caesarean section because of prenatally diagnosed
omphalocele. Her birth weight is 1800 g. An ultrasound of the heart revealed VSD. As for dysmorphic features you note: a small chin, prominent occiput and low set, abnormally shaped ears, club feet. What is the likely karyotype?
A. 47,XX,+13
B. 47,XX,+18
C. 45,X
D. 69,XXY
Anki:
probably 47,XX,+18
VSD is common in Edwards (Chr. 18)
Regarding Down syndrome:
A. The palpebral fissures slope downwards
B. Brushfield spots are found in the mouth
C. Macroglossia may cause speech delay
D. AVSD is pathognomonic of the syndrome
Asli:
C. macroglossia may cause speech delay
(Anki:
I originally thought the palpebral fissures slope downwards but Asli checked with the teacher)
Extra:
- palpebral fissure is “the elliptic space between the medial and lateral canthi of the two open eyelids” –> abnormal (downwards) slanting of the eye most common in Down syndrome
- Brushfield spots are in Down but in the EYES
- (generalised macroglossia is uncommon, rather in Beckwith-Wiedemann syndrome, Hunter syndrome and hypothyroidism, but “Relative macroglossia can be seen normally on occasion but is most common in Down syndrome”)
- AVSD can also frequently be found in Downies
What cancers, other than colon, belong to HNPCC spectrum of cancers?
A. skin cancer and endometrial cancer
B. ovarian and thyroid cancer
C. breast and ovarian cancer
D. endometrial and ovarian cancer
Asli:
endometrial and ovarian cancer
Look closely at the pedigree, and then find an incorrect statement:
A. I2 is it woman
B. III3 is adopted
C. Ill6 is the proband
D. Il1 is affected with the disorder
Ill6 is the proband
bc arrow was pointing to III4
A 4-year old girl was referred to clinical genetics unit due to lack of speech and psychomotor delay. Her parents are healthy. For the first two years her development was normal, she learned to walk and talk but in a few weeks’ time she lost both abilities. She also stopped playing with toys and continues to make movements with her hands that resemble washing. What is the most likely diagnosis for this child?
A. Williams syndrome
B. Rett syndrome
C. Angelman syndrome
D. Fragile X syndrome
Asli:
Rett syndrome
Which of the following statements is true?
A. the undifferentiated primitive gonad is formed from the Wolff canals in males and Muller canals in females
B. the Wolff and Muller canals (ducts) develop into testes and ovaries, respectively
C. the presence of antimullerian hormone (AMH) causes the regression of the bipotential gonad
D. 5-alpha-reductase is an enzyme that converts testosterone into dihydrotestosterone
Asli:
5-alpha-reductase is an enzyme that converts testosterone into dihydrotestosterone
Classical Huntington disease:
A. is a progressive disorder primarily of the muscular system
B. is caused by point mutations in the HTT gene
C. is curable with haloperidol and other neuroleptic drugs
D. leads to an early-onset dementia
Asli:
leads to an early-onset dementia
The diagnostic criteria for neurofibromatosis type 1 include:
A. scoliosis and Lisch nodules
B. hypertension and plexiform neurofibroma
C. café-au-lait macules and learning difficulties
D. optic glioma and Crewe sign
Asli:
optic glioma and Crewe sign
Name a genetic syndrome that does not present with primary amenorrhoea:
A. Turner syndrome
B. complete androgen insensitivity syndrome
C. FMR1-related premature ovarian failure
D. Rokitansky-Mayer- Kustner syndrome
Asli:
FMR1-related premature ovarian failure
Amniocentesis should be recommended in the following clinical situation:
A. a 32-year-old woman in the 15th week of gestation whose sister has a child with simple trisomy 21 (47,XY,+21)
B. a 24-year-old woman in the 18th week of gestation whose husband is a carrier of a balanced robertsonian translocation between chromosomes 14 and 21
C. a 32-year-old woman in the 16th week of gestation with 1:1260 risk of Down syndrome estimated in an integrated non-invasive prenatal testing
D. a 23-year-old woman in the 19th week of gestation with no previous test estimating Down syndrome risk
Anki:
B
Extra:
Downie risk: 1/1,300 for 25-year-old woman; age 35, risk increases to 1/365. At age 45, risk increases to 1/30
- C has “normal risk” and D is young (= lower risk)
- A seems young-ish enough and maybe sister is old?
—> “Robertsonian translocation carriers specially 21-14 are the most common balanced rearrangement among the carrier couples with the history of spontaneous abortion” & “The risk of Down syndrome (trisomy 21) is elevated in the offspring of the rob(14;21) balanced carriers”
The result for GTG analysis according to ISCN: 46,XX,del(5)(p15.3) means:
A. abnormal result, structural aberration, terminal deletion
B. abnormal result, numerical aberration, terminal deletion
C. abnormal result, structural aberration, interstitial deletion
D. abnormal result, structural aberration, terminal duplication
Anki:
abnormal result, structural aberration, terminal deletion
Prader-Willi syndrome can be caused by:
A. a microdeletion of 15q11-13 in the paternal chromosome 15
B. paternal disomy of chromosome 15
C. a duplication of 15q11-13 in the paternal chromosome 15
D. a point mutation in the UBE3A gene
a microdeletion of 15q11-13 in the paternal chromosome 15
Adult polycystic kidney disease is inherited as:
A. autosomal dominant trait
B. autosomal recessive trait
C. X-linked recessive trait
D. X-linked dominant trait
autosomal dominant trait
old question
Following the birth of a child with 47,XX,+21 karyotype, the family should be offered:
A. cytogenetic analysis for each parent
B. cytogenetic analysis for siblings of the child
C. invasive prenatal diagnostics for the mother in each subsequent pregnancy
D. cytogenetic analysis for the mother and parents from the mother’s side
Anki:
B or C –> probably B?? (thinking about future siblings)
Extra:
- You can do NIPT (non-invasive) for Down (99% accurate)
- cytogenetic analysis for parents should not work/help because the parents are healthy
- (already born siblings should already have a diagnosis, but if it means future siblings, then yes, they definitely should be tested)
In a newborn with large birth weight, hypoglycaemia and hemihypertrophy the most probable clinical diagnosis is:
A. Smith-Lemli-Opitz syndrome
B. Prader-Willi syndrome
C. Wolf-Hirschhorn syndrome
D. Beckwith-Wiedemann syndrome
Beckwith-Wiedemann syndrome
old question
It is a well-known fact that an American actress, a carrier of a BRCA1 mutation, underwent prophylactic mastectomy. The most probable reason for her to do so
was:
A. as she approached the age of 40 and she wanted breast implants to look better
B. she wanted to lower her risk of developing ovarian cancer
C. she wanted to get rid of her BRCA1 mutation
D. she wanted to lower her risk of developing breast cancer
she wanted to lower her risk of developing breast cancer
Which statement about Tay-Sachs disease is false?
A. it is common in the Finnish population
B. it is caused by hexosaminidase A deficiency
C. it affects the nervous system
D. it is usually lethal in infancy
Anki:
it is common in the Finnish population
(B & C correct for sure, life expectancy usually 3-4 or 5 years, doesn’t say anything about Finnish)
A newborn with a coarctation of aorta, short neck, low neck hairline and high palate is likely to be diagnosed with:
A. Down syndrome
B. Patau syndrome
C. Klinefelter syndrome
D. Turner syndrome
Asli:
Turner syndrome
Soft-tissue sarcomas, adrenal carcinoma and brain tumours constitute the spectrum of which cancer predisposition syndrome?
A. von Hippel-Lindau syndrome
B. multiple endocrine neoplasia
C. Li-Fraumeni syndrome
D. Lynch syndrome
Asli:
Li-Fraumeni syndrome
What dysmorphic feature of the fingers is shown on the following picture?
A. arachnodactyly
B. polydactyly
C. brachydactyly
D. oligodactyly
polydactyly
Molecular analysis of the BRCA1 gene is indicated in the following situations:
(1) a woman with breast cancer diagnosed at the age of 35 with a negative family history for malignancy
(2) a woman with endometrial cancer and a family history for the same malignancy
(3) a female with bilateral breast cancer diagnosed at the age of 38 and 45 with a negative family history for malignancy
(4) a woman with ovarian cancer diagnosed at the age
of 56 with a history of mastectomy for cancer at the age 44 and a negative family history for malignancy
A. (3), (4)
B. (1), (3), (4)
C. (1), (2), (3)
D. (1), (2), (3), (4)
Asli:
1), (3), (4
The result for QF-PCR analysis: rsa(X)x1, (13,18,21)x2 means:
A. normal result, female foetus
B. abnormal result, female foetus, monosomy of X
C. abnormal result, male foetus, monosomy of X
D. abnormal result, female foetus, trisomy of X
abnormal result, female foetus, monosomy of X
A woman has given birth to a child with trisomy 13. What is the most likely outcome?
A. survival to early adulthood
B. normal life expectancy
C. death in under one week
D. death between 1 and 2 years of age
Asli:
death in under one week
Ambiguous genitalia may be a manifestation of the following, apart from:
A. partial androgen insensitivity syndrome
B. 5alpha-reductase deficiency
C. congenital adrenal hyperplasia
D. complete androgen insensitivity syndrome
Asli:
complete androgen insensitivity syndrome
Which of the following is true?
A. clinodactyly means short fingers
B. hypertelorism means increased distance between the ears
C. brachycephaly means a flat forehead
D. amelia means absence of limbs
amelia means absence of limbs
Extra:
clinodactyly is abnormally bent/curved finger
hypertelorism is between eyes
brachycephaly is lower than normal ratio of skull’s length to width
Colon cancers associated with Lynch syndrome have the following characteristics apart from:
A. predominantly affect the left colon
B. early age of onset (below age 50)
C. predilection for synchronous or metachronous colorectal tumours
D. most exhibit microsatellite instability
Anki:
A. predominantly affect the left colon
(bc “This hypermutation phenotype is observed in nearly 15% of sporadic colorectal tumors and nearly all colorectal tumors that develop in patients with Lynch syndrome”)
Knudson’s two-hit hypothesis describes:
A. the activation process of protooncogenes
B. the inheritance of an autosomal recessive trait
C. the origins of fusion genes
D. the inactivation process of tumour suppressor genes
the inactivation process of tumour suppressor genes
Trastuzumab therapy for early breast cancer is effective in:
A. individuals with BRCA1/2 mutations
B. individuals with tumours harbouring KRAS gene mutation
C. individuals with “triple negative” tumours
D. individuals with cancers exhibiting HER2 amplification
individuals with cancers exhibiting HER2 amplification
HER2 is target
In which of the following situations Amsterdam criteria Il are not met?
A. proband: colon ca (45); mother: endometrial ca. (55); maternal grandfather: small bowel ca. (65)
B. proband: endometrial cancer (51); sister: colon ca. (49); brother: colon ca. (46)
C. proband: colon ca. (57); brother: colon ca. (49); father: colon ca. (67)
D. proband: small bowel ca. (49); father: colon ca. (59); paternal grandmother: endometrial ca. (69)
proband: endometrial cancer (51); sister: colon ca. (49); brother: colon ca. (46)
(bc not two successive generations described –> only siblings)
Extra: Amsterdam criteria II:
- at least three relatives with hereditary nonpolyposis colorectal cancer-associated cancer (all answers)
- one is first-degree relative of other two
- at least two successive generations
- at least one needs to be diagnosed under 50 y.o. (all answers)
- familial adenomatous polyposis should be excluded
Oligodendrogliomas are characterised by the presence of:
A. BCR-ABL fusion gene
B. translocation between chromosomes 9 and 22
C. MITF amplification
D. 1p/19q codeletion
1p/19q codeletion
PALB2 germline mutations increase the risk of:
A. breast and pancreatic cancers
B. ovarian and thyroid cancers
C. brain tumours and colon cancers
D. endometrial and renal cancers
breast and pancreatic cancers
Nijmegen breakage syndrome is characterised by:
A. X-linked recessive inheritance pattern
B. normal life expectancy
C. increased risk for lymphomas
D. multiple fractures of bones during lifetime
increased risk for lymphomas
(half develop non-Hodgkin lymphoma before age 15)
Extra:
is autosomal recessive
“Double minute chromosomes” are:
A. small chromatin bodies containing amplified oncogenes
B. small chromosomes that result from the fusion of p arms of chromosomes
C. amplified satellites of acrocentric chromosomes
D. extrachromosomal DNA that does not contain genes
small chromatin bodies containing amplified oncogenes
The majority of chromosomal instability syndromes:
A. increase a risk of various oncological diseases
B. increase a risk of dementia
C. have no clinical consequences
D. have multifactorial etiology
increase a risk of various oncological diseases
old question
Proto-oncogenes:
A. are genes located outside the nucleus
B. are viruses that initiate carcinogenesis
C. are inactivated tumour suppressor genes
D. when activated turn into oncogenes
Asli:
when activated turn into oncogenes
HSR abbreviation means:
A. high resolution chromosomes
B. homogenously stained chromosomal regions
C. homogenous regions in sister chromatids
D. homogenous repetitive fragments in human genome
homogenously stained chromosomal regions
Delayed ossification of nasal bone in foetus is:
A. a major I trimester ultrasound marker for Down syndrome
B. a minor I trimester ultrasound marker for Down syndrome and bone dysplasias
C. a direct indication for invasive prenatal tests
D. always syndromic and combined with major morphological anomalies in foetus
Asli:
a minor I trimester ultrasound marker for Down syndrome and bone dysplasias
cffDNA means:
A. cell free foetal DNA
B. cancer fraction free DNA
C. cell free fragmented DNA
D. chorionic fragmented free DNA
cell free foetal DNA
Number of miRNAs (micro RNAs) identified in human genome is
A. 2000
B. 20000
C. 10000
D. 100000
2000
One of the regulators of human biological age is
A. number of mutations
B. telomere length
C. number of protein coding genes
D. alcohol consumption
telomere length
Chromosomes are present in the human cells
A. only during cell division
B. only during mitosis
C. only during metaphase
D. through the entire cell cycle
through the entire cell cycle
Chromosome interactions during interphase are called
A. crossing-over
B. mating
C. kissing
D. transitioning
kissing
What is the consequence of alternative-splicing?
A. increase in number of transcripts
B. decrease in number of transcripts
C. increase in number of exons
D. increase in number of introns
Asli:
a or b ??
The optimal time for performing amniocentesis is:
A. 11 - 13+6 hbd
B. 15 - 18 hbd
C. after 10th hbd
D. after 19th hbd
Asli:
15 - 18 hbd
Find the correct combination:
A. FAP - APC gene
B. Li-Fraumeni syndrome - MLH1 gene
C. Lynch syndrome - TP53 gene
D. HBOC - EPCAM gene
FAP - APC gene
Genetic counseling is needed in case of:
A. a 28 y.o. woman who has already had 3 miscarriages; no need to test the partner of this woman
B. a 2 y.o. boy who has a brother with karyotype 47,XY,+21
C. a 30 y.o. man whose father is diagnosed with the disorder which is caused by the mutation in HTT gene
D. a 35 y.o. woman whose father was diagnosed with colon cancer at the age of 57 and her mother was diagnosed with cervical cancer at the age of 29
Asli:
a 30 y.o. man whose father is diagnosed with the disorder which is caused by the mutation in HTT gene
Sequencing of mutator genes should be perform in case of the suspicion of:
A. HNPCC
B. Li-Fraumeni syndrome
C. HBOC
D. FAP
Anki:
FAP??
(bc if paste whole question in google first result is FAP)
Extra:
HNPCC: Hereditary nonpolyposis colorectal cancer
HBOC: Hereditary breast and ovarian cancer
FAP: familial adenomatous polyposis
In which hereditary cancer predisposition syndromes malignancy often appears before adulthood?
A. FAP, HNPCC
B. HBC, HOC, HBOC
C. FAP, hereditary retinoblastoma, Li-Fraumeni syndrome
D. hereditary retinoblastoma, hereditary gastric cancer
Asli:
FAP, hereditary retinoblastoma, Li-Fraumeni syndrome
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
all carriers of BRCA1/BRCA2 pathogenic mutations
Which criteria are met on the following pedigree:
A. Chompret criteria
B. Bethesda criteria
C. Amsterdam Il criteria
D. none of the above
Asli:
Amsterdam Il criteria
A 30 y.o. women who already has a daughter diagnosed with DiGeorge syndrome is in 15 week of gestation. The result of first trimester screening test shows increased risk of Patau syndrome. What kind of genetic examination
should be performed:
A. NIPT (cffDNA)
B. karyotype and molecular examination of the UBE3A gene
C. karyotype and molecular examination of the MECP2 gene
D. karyotype and FISH
Asli:
karyotype and FISH
A healthy couple has two sons diagnosed with achondroplasia:
A. the situation is not possible
B. the situation is possible because of the risk of germline mosaic mutation
C. they have 100% risk of having the third child with achondroplasia
D. they have 50% risk of having the third child with achondroplasia
Asli:
the situation is possible because of the risk of germline mosaic mutation
Which of the following are done as invasive prenatal genetic tests:
A. PAPPA measurement
B. NIPT (cffDNA)
C. aCGH
D. AFP measurement
Asli:
aCGH
The fetus seen on the picture below should be diagnosed towards:
A. campomelic dysplasia
B. Wolf-Hirschhorn syndrome
C. cri-du-chat syndrome
D. thanatophoric dysplasia
thanatophoric dysplasia
The following pedigree shows a family with two men with an “in-frame” deletion in the DMD gene. Who is an obligatory carrier?
A. I.2, II.5, III.2, III.3
B. III.2, III.3, III.6
C. II.5, II.7, III.2, III.3
D. II.2, II.5, II.7
Asli:
I.2, II.5, III.2, III.3
Increased nuchal translucency in a foetus:
A. means that the foetus has Down syndrome
B. rules out giving birth to a healthy child
C. is a second trimester marker of chromosomal abnormalities
D. may be a marker of congenital heart anomaly
Asli:
may be a marker of congenital heart anomaly
A skull anomaly that originates from premature fusion of the sagittal suture and leads to a long and narrow head appearance is called:
A. trigonocephaly
B. plagiocephaly
C. dolichocephaly
D. normocephaly
Anki:
dolichocephaly (long head) –> A & D not for sure
Extra:
trigonocephaly - premature fusion of metopic suture
plagiocephaly - flat spot (from sleeping/lying same position)
normocephaly - normal head shape
A newborn was referred to a clinical geneticist because of ambiguous genitalia. Previous testing revealed a 46,XX karyotype. The next genetic test that should be offered is:
A. androgen receptor gene sequencing
B. FMR1 gene sequencing
C. CYP21A gene sequencing
D. sequencing of gene encoding 5-alfa-reductase
Anki:
androgen receptor gene sequencing?
Extra:
“A 46,XX karyotype in a newborn with ambiguous genitalia indicates that the child is a genetic female who was exposed to excessive amounts of androgens during fetal life.”
“Maternal androgen excess due to maternal ovarian tumor or drug intake also causes female pseudohermaphroditism”
- Female Pseudohermaphroditism
- 5α‐reductase deficiency in males
- 21-hydroxylase deficiency in females often –> Congenital adrenal hyperplasia
Low birth weight, microcephaly, cleft lip with distinctive facial features of hypertelorism, prominent glabella and wide nasal bridge in a newborn suggest the diagnosis of:
A. Wolf-Hirschhorn syndrome
B. DiGeorge syndrome
C. Patau syndrome
D. Edwards syndrome
Wolf-Hirschhorn syndrome
A man with achondroplasia marries a woman with the same disorder. Parents on both sides have height within normal range. What is the probability for this
couple to have a child with a normal stature?
A. 0%
B. 25%
C. 50%
D. 100%
Anki:
50%?
(internet says 50%)
Pedigrees for autosomal dominant and X-linked dominant diseases are sometimes difficult to distinguish (exclude de novo mutations). What is true only for an X-linked dominant pedigree?
A. both males and females are affected
B. affected fathers have affected daughters
C. affected mothers have affected sons
D. affected males always have affected mothers (exclude de novo mutations)
Anki:
affected mothers have affected sons
(bc X usually affects more males so if mum is affected son will be 100% and daughter might not be)
Find a false statement:
A. individuals with Smith-Magenis syndrome commonly expose self-injurious behaviour
B. individuals with Williams syndrome typically have an overfriendly personality
C. individuals with Beckwith-Wiedmann syndrome usually have moderate intellectual disability
D. individuals with Prader-Willi syndrome manifest hyperphagia in early childhood
Anki:
individuals with Beckwith-Wiedmann syndrome usually have moderate intellectual disability
(bc A, B & D correct)
The result for QF-PCR analysis: rsa(X,13,18)x2, (21)×3 means:
A. normal result, female foetus
B. abnormal result, female foetus, trisomy of 21
C. abnormal result, male foetus, trisomy of 21
D. abnormal result, female foetus, trisomy of 13
abnormal result, female foetus, trisomy of 21
bc 2xX and 3x21
What is the explanation for a female carrier of DMD gene mutation to have clinical signs of muscle weakness?
A. skewed X-inactivation
B. a dominant mutation
C. triple X in this female
D. female carriers are never symptomatic
Ilja: A. skewed X-inactivation
Extra:
female carriers can sometimes have mild symptoms,
DMD gene is on X chromosome
Mutations that cause fragile X syndrome:
A. typically they are non-sense mutations in the FMR1 gene
B. in most cases arise as de novo mutations
C. are dynamic mutations that may expand during life time of an individual
D. result in no production of mRNA and hence no FMR1 protein
Asli:
result in no production of mRNA and hence no FMR1 protein
Find a false statement about Charcot-Marie-Tooth
disease:
A. manifests clinically with muscle weakness, atrophy and pes cavus
B. may be inherited in an autosomal dominant
and recessive or X-linked pattern
C. results from deterioration of anterior horn cells
D. is characterised by sensory and motor neuropathy
Asli:
results from deterioration of anterior horn cells
Which diagnosis is the most probable in a 15-year-old boy with muscle cramps, difficulties in running and climbing stairs, significantly elevated CK serum levels and primary myopathic electromyography (EMG)?
A. Becker’s muscular dystrophy
B. spinal muscular atrophy
C. fragile X syndrome
D. juvenile Huntington’s disease
Becker’s muscular dystrophy
The risk of hepatoblastoma and Wilms tumour (compared to the population risk) in increased in the following syndrome:
A. Smith-Lemli-Opitz syndrome
B. Smith-Magenis syndrome
C. Beckwith- Wiedemann syndrome
D. Silver-Russell syndrome
Beckwith- Wiedemann syndrome
You are asked to consult a 10-year-old girl. She has short stature, is mildly mentally retarded, but very talkative and easy going; an ultrasound of the heart revealed an aortic stenosis. You learn that she had high calcium levels during childhood. As for dysmorphic features you note: a wide mouth and abnormal shape of the ears. What is the likely diagnosis?
A. Turner syndrome
B. Williams syndrome
C. Down syndrome
D. Prader-Willi syndrome
Williams syndrome
The following is incorrect about Smith-Lemli-Opitz syndrome:
A. the disease is caused by 7-dehydrocholesterol reductase deficiency
B. 7-dehydrocholesterol serum levels are elevated
C. total cholesterol serum levels are decreased
D. 7-dehydrocholesterol urine levels are elevated
Anki:
total cholesterol serum levels are decreased
Extra:
A is correct, B (and D?) too, bc have increased concentrations of 7DHC in body fluids and tissues
“Cholesterol levels are usually low in SLOS patients, but they can also be normal”
A balanced translocation between whole short arms of chromosomes 3 and 7 will be not detected using:
A. FISH with whole chromosome painting probes
B. aCGH
C. GTG
D. FISH with subletomeric probes
aCGH
bc method detects copy number alterations but not spatial rearrangements
Which answer presents a correct matching of typical ocular signs and corresponding genetic syndromes?
A. Williams syndrome - aniridia, neurofibromatosis type 1 - Lisch nodules
B. Wilson disease - Keyser-Fleischer ring, Wolf-Hirschhorn syndrome - aniridia
C. Williams syndrome - Brushfield spots, Marfan syndrome - ectopia lentis
D. Wilson disease - stellate pattern of the iris, Patau syndrome - microphthalmia
Asli:
Wilson disease - Keyser-Fleischer ring, Wolf-Hirschhorn syndrome - aniridia
Healthy parents have already one child with Hunter syndrome. Which sentence correctly describes the theoretical risk of recurrence in the offspring?
A. there is a 25% risk of recurrence, sons and daughters are equally likely to be affected
B. there is a 50% risk of recurrence, sons and daughters are equally likely to be affected
C. there is a 25% risk of recurrence, only sons might be affected
D. there is a 25% risk of recurrence, only sons might be affected
Asli:
there is a 25% risk of recurrence, only sons might be affected
Molecular testing has revealed that a woman has 29 and 99 CGG triplet repeats in each of the alleles of the FMR-1
gene. Choose the correct statement:
A. she must have intellectual disability
B. she has no intellectual disability but is at risk of having children affected by fragile X syndrome
C. she is healthy but is a mutation carrier
D. she has two wild-type alleles
Asli:
she has no intellectual disability but is at risk of having children affected by fragile X syndrome
You requested a methylation test in a girl with Prader-Willi phenotype. An abnormal result means?
A. the girl has Angelman syndrome
B. this is a conformation that the girl has a microdeletion in the critical region 15q11-13
C. this is a conformation that the girl has a maternal disomy of chromosome 15
D. this is a conformation that the girl has Prader-Willi syndrome, but the cause is not clarified
Asli:
this is a conformation that the girl has Prader-Willi syndrome, but the cause is not clarified
Which genes would you test in a 30-year-old woman with breast cancer and strong family history of the disease?
A. MLH1 and MSH2,
B. only TP53
C. only BRCA1, BRCA2
D. BRCA1, BRCA2 and TP53
BRCA1, BRCA2 and TP53
Achondroplasia - find a true statement:
A. affects the long bone growth but does not affect the intelligence
B. is characterised by a proportional short stature and is caused by a mutation in FGFR3 gene
C. is caused by a mutation in bone growth factor and is inherited in an autosomal recessive manner
D. is caused by a mutation in FGFR3 gene which in most cases is inherited from one of the parents
affects the long bone growth but does not affect the intelligence
Mismatch repair genes encode proteins involved in:
A. correcting double-strand breaks
B. removing DNA adducts
C. cellular proliferation
D. correcting erroneously paired bases
Asli:
correcting erroneously paired bases
Anti-EGFR monoclonal antibody therapy for metastatic colorectal cancer is effective in:
A. individuals with Lynch syndrome
B. individuals with tumours harbouring KRAS gene mutation
C. carriers of the APC gene mutation
D. individuals with cancers exhibiting HER2 amplification
Asli:
individuals with tumours harbouring KRAS gene mutation
Hereditary colon cancer syndrome with an autosomal recessive pattern is associated with mutations in the following gene:
A. APC
B. MLH1
C. EPCAM
D. MYH
Asli:
MYH
Find a false statement about the MGMT promoter methylation:
A. it is the only potential marker that predicts response to treatment with alkylating agents in glioblastoma
B. it is constant in every tumour cell of a particular patient
C. methylation of the MGMT promoter leads to loss of gene function
D. the MGMT gene encodes a DNA repair protein
it is constant in every tumour cell of a particular patient
Hereditary breast cancer is most frequently caused by mutations in:
A. BRCA1
B. TP53
C. PALB2
D. APC
BRCA1
Find a false statement about personalized treatment of oncological diseases in light of current evidence:
A. it targets the so-called „drive mutations”
B. it is used in case of breast and ovarian cancer, lung cancer, melanoma, gastrointestinal stromal tumour and metastasis of colorectal cancer
C. detection of particular mutation in tumour cells is necessary to guide personalized treatment strategies
D. targeted treatment is usually effective in every reoccurrence of the malignancy
targeted treatment is usually effective in every reoccurrence of the malignancy
Olaparib, used in personalised ovarian cancer therapy, induces death of cancer cells with:
A. TP53 mutations
B. Her2 amplification
C. either germline or somatic BRCA1 mutations
D. KRAS gene mutation
either germline or somatic BRCA1 mutations
Familial adenomatous polyposis:
A. is characterised by the presence of hamartomas in the intestine
B. increases the risk of endometrial cancer
C. may have extracolonic manifestations
D. may be caused by mutations in MSH2 gene
Anki:
may have extracolonic manifestations
(bc one old question asked which those were)
Short stature in females with Turner syndrome is caused mainly by:
A. haploinsufficency of IGF-1 gene that in localised in pseudoautosomal region 1
B. methylation of FGFR1 gene in pseudoautosomal region 2
C. haploinsufficency of SHOX gene that is localised in pseudoautosomal region 1
D. methylation of GHR gene in pseudoautosomal region 2
Asli:
haploinsufficency of SHOX gene that is localised in pseudoautosomal region 1
Lumacaftor/Ivacaftor combined therapy is used for the treatment of:
A. spinal muscular atrophy in patients with at least 2 copies of SMN2 pseudogene
B. Duchenne muscular dystrophy in patients with „out-of-frame” mutations
C. hyperphenylalaninemia caused by a deficiency of BH4 (tetrahydrobiopterin)
D. cystic fibrosis in patients homozygous for F508del mutation
Asli:
cystic fibrosis in patients homozygous for F508del mutation
Chromosome interactions are responsible for
A. crossing-over
B. gene transcription regulation
C. gene transfer
D. DNA repair
Anki:
(I think he said in class:) gene transcription regulation
Indicate genes that do not code for proteins
A. para-genes
B. miRNAs
C. immunoglobulins
D. DNA repair genes
miRNAs
A 25 y.o. women is in 12th week of gestation. Both partners are carriers of the SMN1 gene mutation. What genetic advice should be given?
A. first trimester screening test and after that decision about invasive prenatal examination according to the results of the non-invasive test
B. invasive prenatal test: karyotype should be the first-choice examination
C. invasive prenatal test: targeted molecular test of the mutations which are already found in the family
D. regardless of the result of the first trimester screening test - no indication for invasive prenatal test
Asli:
first trimester screening test and after that decision about invasive prenatal examination according to the results of the non-invasive test
The first-choice genetic test in case of the suspicion of spinal muscular atrophy is:
A. aCGH
B. MLPA of SMN1 gene
C. sequencing of SMN1 gene
D. FISH
Asli:
MLPA of SMN1 gene
The microdeletion critical for DiGeorge syndrome can be detected using FISH technique with a:
A. 22q11 centromeric probe
B. 22 whole chromosome painting probe
C. 22q11.2 locus specific identifier probe
D. 22q11 subtelomeric probe
Asli:
22q11.2 locus specific identifier probe
Which of the following is true for neurofibromatosis type 1 (NF1)?
A. there is no variability in phenotypic expression
B. the penetrance is nearly 100%
C. mutations causing the disorder never arise de novo
D. the diagnosis of the disorder can only be made through molecular testing
Asli:
the penetrance is nearly 100%
Male infertility may be caused by:
1) Klinefelter syndrome
2) MAIS
3) microdeletions involving AZF region(s)
4) CFTR mutations
5) 47,XYY karyotype
A. 1, 2, 4
B. 1, 3, 4
C. 1, 2, 3, 4
D. 1, 2, 3, 4, 5
1, 2, 3, 4, 5
