Tutorial three: Chromosomal basis of disease

1. Which of the following statements about human meiotic division are true and which are
not? Justify the answer you provide.

a) daughter cells with 23 chromosomes are produced

b) daughter cells with identical chromosomes are produced
c) recombination takes place during prophase II
d) the process takes longer in males than in females
e) a 47,XYY karotype arises from an error during paternal meiosis II

2. Explain why karyotypes obtained by chorionic villus sampling at 10 weeks gestation

reveal different frequencies of chromosomal abnormalities from those obtained by
amniocentesis at 16 weeks gestation.

3. Are the following examples of aneuploidy? Justify the answer you provide.
a) 46,XY
b) 69,XXY
c) 47,XXY
d) 45,X
e) 92,XXXX

4. Interpret the following cytogenetic report:

46,XY, rcp(1;2)(p21;q21)

5. The karyotypes of a couple who lost a baby soon after birth because of multiple
abnormalities have revealed that the father has a balanced reciprocal translocation
involving chromosomes 4 and 11. Should the parents be informed that:
a) all their future children will be abnormal
b) the baby who died was probably triploid
c) it is unlikely that the translocation will cause ill health in the father but there is a
significant risk that some future children will be abnormal
d) balanced reciprocal translocations are usually harmless so it is unlikely that this
finding is relevant to the baby’s abnormalities
e) the rearrangement in the father occurred as a result of non-
disjunction