Williams Syndrome: A Case Series.
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Date
2014-05
Journal Title
Journal ISSN
Volume Title
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Abstract
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.
Description
Keywords
FISH, Microdeletion, Williams syndrome
Citation
Kandasamy Subapriya, Saxena Deepti, Kishore Yougal, Phadke Shubha R. Williams Syndrome: A Case Series. Indian Pediatrics. 2014 May; 51(5): 411-412.