Which one of the following conditions in humans is correctly matched with its chromosomal abnormality/linkage?
- Klinefelter's syndrome — 44 autosomes + XXY
- Colour-blindness — Y-linked
- Down syndrome — 44 autosomes + XO
- Erythroblastosis foetalis — X-linked
Answer
(1) Klinefelter's syndrome — 44 autosomes + XXY
Solution
As per NCERT, Klinefelter's syndrome is caused by an additional X chromosome ⇒ karyotype 47, i.e., 44 autosomes + XXY ⇒ correctly matched.
Colour-blindness is a sex-linked (X-linked) recessive disorder, not Y-linked.
Down syndrome is due to trisomy of chromosome 21 (45 autosomes + XX/XY); 44 autosomes + XO is Turner's syndrome.
Erythroblastosis foetalis results from Rh incompatibility between mother and foetus; it is not X-linked.
∴ Only the first pair is correct.
Answer: (1)