Principle of Inheritance and VariationMediumBloom L3
Question
Absence of one sex chromosome causes
Options
A.Turner's syndrome
B.Klinefelter's syndrome
C.Down's syndrome
D.Tay-Sach's syndrome
Solution
Sol.(a) [Key Concept: Turner's Syndrome — Monosomy X (45,XO)] Absence of one sex chromosome (45,XO = 2n-1 for sex chromosome) causes TURNER'S SYNDROME. Affected individuals are female in phenotype but have only one X chromosome (XO). Features: short stature, webbed neck, absence of puberty/sexual development (ovarian dysgenesis), infertility, and shield-shaped chest. Klinefelter's = 47,XXY (extra X); Down's = trisomy 21; Tay-Sach's = autosomal recessive enzyme deficiency (lysosomal storage disease).
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