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Gynaecology & Obstetrics Miscellaneous (Gynae) 6bc67e67

Down's syndrome is due to:

A
5/12 translocation
B
18 trisomy
C
21trisomy
D
14/21 trisomy
High-Yield Explanation
Ans: c (21 trisomy)Ref: Nelson Pediatrics, 19th ed., Pg. 384Trisomy 21, Down's syndrome seen in 1/600-800 births. Please note the clinical features which are often asked Hypotonia Dysplasia of the pelvis Flat face, cardiac malformations Speckled irises Simian crease (Brushfield spots) Varying degrees of mental Short, broad hands and growth retardation Hypoplasia of middle Upward slanted palpebral phalanx of 5th finger fissures and epicanthic folds Intestinal atresia, and high arched palate

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