1.

The normal human chromosome diploid number is:

a) 23
b) 24
c) 46
d) 48
2.In meiosis, recombination occurs in:
a) Metaphase I.
b) Prophase I.
c) Metaphase II.
d) Prophase II.
3.Which of the following is an example of monosomy?
a) 46,XX
b) 47,XXX
c) 69,XYY
d) 45,X
4.In a Robertsonian translocation fusion occurs at the:
a) telomeres.
b) centromeres.
c) histones.
d) ends of the long arms.

5.The presence of two or more cell lines from different zygotes in a single individual is
known as:
a) mosaicism.
b) diploidy.
c) aneuploidy.
d) chimaerism.
6.In DNA adenine normally pairs with:
a) cytosine.
b) guanine.
c) thymine.
d) uracil.
7.A nonsense mutation involves:
a) a regulatory sequence.
b) an AG splice acceptor site.
c) the creation of a different amino acid.
d) the creation of a stop codon.
8.Exon skipping is associated with:
a) nonsense mutations.
b) regulatory mutations.
c) RNA processing mutations.
d) silent mutations.

9.Which of the following conditions is caused by a trinucleotide (triplet) repeat

expansion?
a) Cystic fibrosis
b) Duchenne muscular dystrophy
c) Huntington disease
d) Osteogenesis imperfecta
10.Large triplet repeat expansions can be detected by:
a) polymerase chain reaction.
b) single strand conformational polymorphism analysis.
c) Southern blotting.
d) Western blotting.
11.The most common chromosome abnormality in first trimester spontaneous
miscarriages is:
a) trisomy.
b) monosomy.
c) triploidy.
d) tetrasomy.
12.Which of the following karyotypes is not compatible with survival to birth?
a) 47,XY,+13
b) 47,XX,+18
c) 47,XY,+21

d) 45,Y

13.The DiGeorge/Shprintzen syndrome is caused by a deletion in which chromosome?

a) 4
b) 7
c) 15
d) 22

14.Which of the following is not a chromosome instability syndrome?

a) Klinefelter syndrome
b) Ataxia telangiectasia
c) Fanconi anaemia
d) Bloom syndrome

15.Which of the following trisomy karyotypes has the mildest effect on human
development?
a) 47,XXX
b) 47,XXY
c) 47,XX,+13
d) 47,XY,+21
1

Enzyme assay can be used to identify carriers of:

a) Cystic fibrosis.
b) Fragile X syndrome.

c) Oculocutaneous albinism.
d) Tay-Sachs disease.
17.The maternal serum level of alpha-fetoprotein (AFP) is lower than average in which
situation?
a) Down syndrome
b) Exomphalos
c) Neural tube defects
d) Twin pregnancies
18.Which of the following diagnostic techniques is of no value for the diagnosis of neural
tube defects?
a) Amniocentesis
b) Chorion villus sampling (CVS)
c) Maternal serum screening
d) Ultrasonography
19.The risk for miscarriage associated with amniocentesis is approximately ____.
a) 1 in 10
b) 1 in 50
c) 1 in 100 to 1 in 200
d) 1 in 1000
20.Which of the following findings on prenatal ultrasound examination would not raise
suspicion of a chromosome abnormality?
a) Duodenal atresia

b) Holoprosencephaly
c) Hydrops fetalis
d) Monozygotic twins
21.The proportion of genes shared by first cousins is on average ___.
a) 1/2
b) 1/4
c) 1/8
d) 1/16
22.Which of the following genes conveys susceptibility for polygenic
Alzheimer disease?
a) APP
b) PS1
c) PS2
d) APOE
23.Which of the following statements about Hirschsprung disease is
incorrect?
a) It shows an association with Down syndrome.
b) It is more common in girls than in boys.
c) RET is a major susceptibility gene.
d) Recurrence risks are greater for long segment disease than for short
segment disease.
24.Which of the following conditions does not show multifactorial inheritance?
a) Pyloric stenosis
b) Schizophrenia
c) Spina bifida (neural tube defects)
d) Marfan syndrome
25.In a condition such as schizophrenia the recurrence risk will be greatest for
which of the following relatives of an affected individual?
a) Brother
b) Nephew
c) Grandchild
d) Aunt