Which one of the following condition in humans is correctly matched with its chromosomal abnormality/linkage?

Which one of the following condition in humans is correctly matched with its chromosomal abnormality/linkage?
  1. Klinefelter's syndrome-44 autosomes $+\mathrm{XXY}$
  2. Colourblindness - Y-linked
  3. Erythroblastosis foetalis-X-linked
  4. Down syndrome-44 autosomes + XO

Solution

Klinefelter's syndrome is represented by 44 autosomes + XXY. When an abnormal egg with $\mathrm{XX}$ chromosome is fertilized by a sperm carrying Y-chromosome a zygote having $\mathrm{XXY}$ sex chromosomes is formed. The resulting young one is an abnormal sterile male. The 44 autosome + XO condition is due to Turner's syndrome. Such females are sterile and have short stature, webbed neck, broad shield-shaped chest etc. Down's syndrome is due to trisomy of $21^{\text {st }}$ pair of chromosome. It is characterised by moderate mental retardation, large tongue, short stature, stubby fingers, an enlarged liver and spleen. Colourblindness is an X-linked disease. The person suffering from this disease cannot differentiate between red and green colours. Erythrobalstosis-foetalis is caused due to $\mathrm{Rh}$ factor in child of $\mathrm{Rh}^{+}$man and $\mathrm{Rh}^{-}$woman.

Asked in: NEET 2008 (Screening)

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