Article
Williams syndrome: a case series.
Indian pediatrics - 1 May 2014
Kandasamy Subapriya, Saxena Deepti, Kishore Yougal, Phadke Shubha R
Abstract excerpt
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...
Topics
- Adolescent
- Child
- Child, Preschool
- Chromosome Deletion
- Facies
- Female
- Humans
- In Situ Hybridization, Fluorescence
- Infant
- Male
- Phenotype
- Williams Syndrome