Principle of Inheritance and VariationMediumBloom L3
Question
Which one of the following conditions in humans is correctly matched with its chromosomal abnormality/linkage?
Options
A.Klinefelters syndrome – 44 autosomes + XXY
B.Colour blindness – Y-linked
C.Erythroblastosis foetalis - X-linked
D.Downe syndrome – 44 autosomes + XO
Solution
Sol.(a) [Key Concept: Chromosomal Abnormalities — Klinefelter's] Klinefelter's syndrome = 44 autosomes + XXY (total 47 chromosomes) is CORRECTLY MATCHED. Klinefelter's males have gynecomastia (breast development), small testes, sterility, and may have mild intellectual disability. Other options are WRONG: Colour blindness is X-LINKED recessive (not Y-linked); Erythroblastosis foetalis is caused by Rh blood group incompatibility (autosomal); Down syndrome = 44 autosomes + trisomy 21 (not XO — XO is Turner syndrome).
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