The following karyotype is suggestive of which disorder?
Correct Answer: Patau syndrome
Description: The above karyotype is suggestive of patau syndrome: Trisomy 13 Clinical features of Trisomy 13/Patau syndrome Cardiac defects (Ventricular septal defect/atrial septal defects/patent ductus aeriosus) Microcephaly, Microphthalmia Cleft lip/palate Developmental delay Ocular hypotelorism Holoprosencephaly Thin posterior ribs (missing ribs) Renal abnormalities Polydactyly with flexed fingers Polycystic kidneys Scalp defects(aplasia cutis) Ref: Nelson textbook of pediatrics 21st edition pgno: 659
Category:
Pediatrics
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