Williams syndrome in a preterm infant with phenotype of Alagille syndrome

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

doi:10.1002/ajmg.a.32356

Williams syndrome in a preterm infant with phenotype of Alagille syndrome

Prakesh S. Shah, Prashanth Murthy, David Skidmore, Lisa G. Shaffer, Bassem A. Bejjani, David Chitayat

Research output: Contribution to journal › Article › peer-review

9 Citations (Scopus)

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.

Original language	English
Pages (from-to)	2407-2411
Number of pages	5
Journal	American Journal of Medical Genetics, Part A
Volume	146
Issue number	18
DOIs	https://doi.org/10.1002/ajmg.a.32356
Publication status	Published - Sept 15 2008
Externally published	Yes

ASJC Scopus Subject Areas

Genetics
Genetics(clinical)

PubMed: MeSH publication types

Case Reports
Journal Article

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10.1002/ajmg.a.32356

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AU - Bejjani, Bassem A.

AU - Chitayat, David

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Williams syndrome in a preterm infant with phenotype of Alagille syndrome

Abstract

ASJC Scopus Subject Areas

PubMed: MeSH publication types

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