Genetics Exam
Group F
1- Salim is 16Y diagnosed with Duchenne muscular dystrophy at age 7Y. He has one
healthy 10Y sister and one 5Y brother (non-consanguineous parents). He has one
maternal uncle who is bedridden and on ventilation (now 23Y old) and lost one at age of
25Y with respiratory distress. He has one healthy maternal uncle and one maternal aunt
with a healthy 3Y old male child. His grandmother died with cardiac disease at age of
45Y and lost two siblings at age of 15 and 20 years who were bedridden and had
respiratory distress. He has one paternal uncle and paternal aunt both are healthy and
paternal grandparents are also living healthy non-consanguineous.
males
unl
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a.
b.
c.
d.
Draw the family pedigree of this patient.
linked -receive
What is the mode of inheritance? State your reasons. x
Who are the obligate carriers in this pedigree? zaline mother, A
What is the risk for Salim’s sister and brother to be affected?
matsina grandmother
7Y.
2- What is the difference between association and syndrome. Give an example for each?
Asociative
multight manifistations in sumene withetgenetic eticles,
sticle.
Sandra
-I
recognizable trainaccor together with sent
1- Cystic fibrosis is an autosomal recessive genetic disorder. What are the chances that the
child would have the disease if one parent was carrier and other one was affected with
faulty cystic fibrosis gene?
in
Dr
a. 100%
b. 50%
er, ir, Ra
&
ur,
c. 25%
d. 0%
Itte
-
-
-
-
-
2- Chromosomal microarray is used for diagnosis of which of the following genetic defects?
a. Triplet repeats disorders
b. Copy number variations
0
c. Point mutations
d. Nucleotide substitutions
3. A one-year-old boy was born with talipes. What is the best definition of this anomaly?
a. Malformation
b. Deformation
0
c. Dysplasia
d. Disruption
4. Which one of the following is the preferred test for diagnosis of sickle cell disease?
a. Sanger sequencing
0
b. Exome sequencing
c. Genome sequencing
d. Methylation analysis
5. Hemophilia is X-linked recessive disorder, rarely females express the disease unless they
are:
a. carrier for the defect
b. wives of haemophilic husbands
c. homozygous for the defect
0
d. heterozygous for the defect
6. Maternal serum level of alpha-fetoprotein is lower than average in which situation?
a. Down syndrome
0
b. Exomphalos
c. Neural tube defects
d. Twin pregnancies
7. Which of the following findings on prenatal ultrasound examination would not raise
suspicion of a chromosome abnormality?
a. Duodenal atresia
0
b. Holoprosencephaly
c. Hydrops fetalis
d. Monozygotic twins
8. Which of the following factors does not affect prognosis in a patient with an established
treatable inborn error of metabolism? are amenable to treatment with exon skipping?
a. type of mutation
b. Residual enzyme activity
c. Age at diagnosis
d. Number of affected relatives
O
9. A three-year-old male child was diagnosed with down syndrome. His chromosomal
analysis showed the following karyotype: 46, XY, +der (14; 21) (q10: q10). The father
was identified to be a carrier for a balanced translocation. The karyotype of the father
was:
a. 46, XY, +der (14; 21) (q10: q10)
b. 45, XY, rob (14; 15) (q10; q10)
c. 45, XY, rob (14; 21) (q10; q10)
①
d. 45, XX, rob (14; 21) (q10; q10)
10.Which of the following is a feature of X-linked inheritance?
a. Parental consanguinity
b. Male to male transmission
⑧c. Transmission only by females
d. Transmitted by males only to females
11.A 2-year-old boy presented with craniosynostosis. The genetic result showed mutation in
the FGFR2 gene, written as p.(Asn75GInfsTer11). Which of the following is the term
used to describe this mutation?
a. Frameshift
b. In-frame deletion
c. Missense
d. Nonsense
O
12.Regarding types of morphologic abnormalities, which of the following best describes a
malformation?
a. A defect caused by an abnormal organization of the cells
b. It is a specific anomaly and cannot be caused by nutritional factors
c. It is an intrinsic abnormal development, occurs during early embryonic stage
0
d. It is commonly caused by an extrinsic non-disruptive mechanical force
13.During a clinical encounter for a family with a genetic condition, you noted increasing
the severity and earlier onset of the disease in subsequent generations. What is this
phenomenon called?
a. Anticipation
O
b. Genomic imprinting
c. Mosaicism
d. Uniparental disomy
14.You are evaluating a 1-year-old boy with acute encephalopathy. Which one of the
following investigations should not be part of your initial diagnostic assessment?
a. Complete blood count
b. Blood culture
c. Urine for toxicology screen
d. Plasma amino acids
0
15.When managing a patient with an intoxication type of inborn errors of metabolism, the
following are all among main objectives that are targeted during acute management
except:
a. Eliminate sources of toxins
b. Enhancing catabolism
O
c. Promoting anabolism
d. Treating precipitating cause
16.Which one of the following statements is true about intervention at the level of the family
(genetic counseling)
a. Society does not accept and hence it should not be offered
b. Genetic counseling is ineffective because of the high illiteracy rates
c. There are no preventative options for married carrier couples with disease causing
mutations
d. Pre and post genetic testing counselling sessions are important for effective utilization
of the genetic testing results
0
17.Which of the following types of mutations are amenable to treatment with exon skipping?
a. Missense mutations
b. Translocations
c. Aneuploidy
d. Nonsense mutations
O
18.Considering normal repeat expansion of FMRI gene is less than 50 repeats. Which of the
following individuals will have fragile X syndrome?
a. 6 repeats of CGG
b. 30 repeats of CGG
c. 150 repeats of CAG
d. 700 repeats of CGG
0
19.What mode of inheritance in the following pedigree?
a. Autosomal dominant
b. Maternal
c. X-linked
0
d. Autosomal recessive
20.The triad of features characteristic of Marfan's syndrome all except? are
a. Skeletal changes: long, thin extremities, frequently associated with loose joints
b. Reduced vision as the result of dislocation of the lenses (ectopia lentis)
c. Aortic root dilation and aortic aneurysms
d. Hypertrophic cardiomyopathy
O