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Williams syndrome in a preterm infant with phenotype of Alagille syndrome

✍ Scribed by Prakesh S. Shah; Prashanth Murthy; David Skidmore; Lisa G. Shaffer; Bassem A Bejjani; David Chitayat

Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 117 KB
Volume: 146A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.32356

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

We report on a preterm infant born at 31 weeks of gestation with a phenotype suggestive of Alagille syndrome, yet microarray analysis identified a deletion on 7q11.23 at the Williams syndrome locus. The infant died on day 18 of life with overwhelming sepsis. This case illustrates the importance of microarray analysis in diagnosing genetic conditions, especially in preterm babies whose facial and other clinical manifestations have not fully developed. © 2008 Wiley‐Liss, Inc.

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