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Pathology Mendelian Disorders: Single-Gene Defects cbf6f5fa

Pataus syndrome due to -

A
Trisomy 21
B
Trisomy 18
C
18 P
D
Trisomy 13
High-Yield Explanation
Ans. is 'd' i.e., Trisomy 13 Trisomv 13 (Patau's syndrome)Head & FaceChestExtremitieso Scalp defects (cutis aplasia )o Congenital heart diseaseo Overlapping of finger &o Microphthalmia, comeal(VSD, PDA, ASD in 80%)toes (Clinodactyly, polydactyly)abnormalitieso Thin posterior ribs (missingo Hypoplastic & hyperconvexo Cleft lip & palate (60-80%)ribs)nailso Microcephaly o Sloping head o Hoioprosencephaly o Capiiary hemangioma o Deafness o Severe developmenal delays & prenatal, postnatal growth retardation & renal abnormalities is seen in trisomy 13.o Only 5% patients of trisomy 13 live more than 6 months.

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