3 months old child with typical mewing cry and congenital hea disease, chromosome abnormality
Ans. is 'b' i.e., 5p Cri-du-chat syndrome. A high-pitched cry like a cat, giving the syndrome its name. Genetic studies have confirmed that this characteristic cry results from the deletion at 5p15 The main features are hypotonia, sho stature, characteristic cry, microcephaly with protruding metopic suture, moonlike face, hypeelorism, bilateral epicanthic folds, high arched palate, wide and flat nasal bridge, and mental retardation. Cardiac abnormalities including ventricular septal defect, atrial septal defect, patent ductus aeriosus and Fallot's tetralogy.
5g
5p
4p
9p