Principle of Inheritance and VariationMediumBloom L3

Question

A disease caused by an autosomal primary non-disjunction is [NEET 2017]

Options

A.Klinefelter's Syndrome
B.Turner's Syndrome
C.Sickel Cell Anemia
D.Down's Syndrome

Solution

Sol.(d) [Key Concept: Autosomal Non-disjunction — Down's Syndrome] DOWN'S SYNDROME is caused by autosomal PRIMARY non-disjunction — specifically non-disjunction of chromosome 21 (an autosome) during meiosis I (primary non-disjunction) or meiosis II. The resulting gamete has two copies of chromosome 21; fertilisation gives trisomy 21 (47 chromosomes). Klinefelter's (47,XXY) and Turner's (45,XO) syndromes are caused by non-disjunction of SEX chromosomes (not autosomes). Sickle cell anaemia is a single gene (point mutation) disorder, not a chromosome number disorder.

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