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Indian Pediatr ; 2014 May; 51(5): 411-412
Artigo em Inglês | IMSEAR | ID: sea-170626

RESUMO

Pediatricians’ awareness about malformation syndromes can help in their timely diagnosis. Williams syndrome is a microdeletion syndrome associated with characteristic facial features and behavioral phenotype. Diagnosis can be confirmed by fluorescence-in-situ hybridization or multiplex ligation probe amplification. Correct diagnosis can help in diagnosing hypercalcemia and cardiac defects, and providing genetic counseling to the family.

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