Principle of Inheritance and VariationMediumBloom L3
Question
Down's syndrome in humans is due to
Options
A.Two 'Y' chromosomes
B.Three 'X' chromosomes
C.Three copies of chromosome 21
D.Monosomy
Solution
Sol.(c) [Key Concept: Down's Syndrome — Trisomy 21] Down's syndrome (trisomy 21) is caused by THREE COPIES OF CHROMOSOME 21 (total 47 chromosomes, 2n+1). Non-disjunction of chromosome 21 during meiosis produces a gamete with 2 copies of chromosome 21; when fertilised by a normal gamete, the zygote has 3 copies. Clinical features: intellectual disability, flat face, epicanthal folds, protruding tongue, short stature, and congenital heart defects. Two Y chromosomes = XYY syndrome; Three X chromosomes = XXX (superfemale); Monosomy = Turner syndrome (45,XO).
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