Principle of Inheritance and VariationMediumBloom L3

Question

Down's syndrome in humans is due to [NEET Kar. 2013]

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 is due to THREE COPIES OF CHROMOSOME 21 (trisomy 21). Non-disjunction of chromosome 21 during meiosis produces an egg or sperm with two copies; fertilisation results in 47 chromosomes with 3 copies of chromosome 21. Features: intellectual disability, characteristic flat facial features, epicanthal folds, single palmar crease, and congenital heart defects in 40% of cases.

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