MCQs on Common chromosome disorders

Question 1

The most common chromosome abnormality in first trimester spontaneous miscarriages is:
Your answer:
b) monosomy.
Correct answer:
a) trisomy.
Trisomy, particularly trisomy 16, is the commonest chromosome cause of early miscarriage.
Page reference: 51

Question 2

Which of the following karyotypes is not compatible with survival to birth?
Your answer:
d) 45,Y
The human embryo cannot survive without an X chromosome.
Page reference:59

Question 3

The DiGeorge/Shprintzen syndrome is caused by a deletion in which chromosome?
Your answer:
b) 7
Correct answer:
d) 22
The DiGeorge/Shprintzen syndrome is caused by a deletion in the long arm of chromosome 22(q11).
Page reference: 65

Question 4

Which of the following is not a chromosome instability syndrome?
Your answer:
c) Fanconi anaemia
Correct answer:
a) Klinefelter syndrome
Klinefelter syndrome is caused by the presence of an additional X chromosome in a male i.e. 47,XXY.
Page reference: 66

Question 5

Which of the following trisomy karyotypes has the mildest effect on human development?
Your answer:
d) 47,XY,+21
Correct answer:
a) 47,XXX
Women with a 47,XXX karyotype show normal physical development whereas men with a 47,XXY karyotype have small testes and are infertile.
Page reference: 61

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