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 journalArticlepeer-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 languageEnglish
Pages (from-to)2407-2411
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume146
Issue number18
DOIs
Publication statusPublished - Sept 15 2008
Externally publishedYes

ASJC Scopus Subject Areas

  • Genetics
  • Genetics(clinical)

PubMed: MeSH publication types

  • Case Reports
  • Journal Article

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