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Question

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

A
Klinefelter's syndrome - 44 autosomes + XXY
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B
Colour blindness - Y linked
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C
Erythroblastosis foetalis - X linked
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D
Down syndrome - 44 autosomes + XO
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Solution

The correct option is A Klinefelter's syndrome - 44 autosomes + XXY
Erythroblastosis foetalis is caused by Rh factor, the gene for which is present on an autosome; not on the sex chromosome. When an Rh-negative mother is impregnated by an Rh-positive father and is carrying an Rh-positive baby, the fetus Rh antigens will be perceived as foreign invaders in mother's body. During first pregnancy, the antibodies are produced in lower concentration and does not harm the fetus. During second pregnancy with Rh+ baby, concentration of antibodies against Rh factor will build up in mother, which will attack the blood cells of fetus and will cause its death (Erythroblastosis foetalis).
Colour blindness is a X-linked recessive disorder. One copy of the affected gene in males in each cell is sufficient to cause the disorder
(XcY). Females with two copies of the affected gene show the disorder (XcXc). Females heterozygous (XcX) for this trait be normal but serve as a carrier of the disease.
Klinefelter's syndrome is the condition when a male is having one or
more extra X chromosomes. Human males have one Y and one X chromosome (XY). A male with Klinefelter's syndrome has sex chromosome arrangement of 44+ XXY/XXXY or XXXXY.
Presence of full or partial extra three copies of chromosome 21 causes Down syndrome. It is called as trisomy 21 and is represented as 45 +XY or 45+XX. Correct option is A.


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