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

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9 Citations (Scopus)

Résumé

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.

Langue d'origine	English
Pages (de-à)	2407-2411
Nombre de pages	5
Journal	American Journal of Medical Genetics, Part A
Volume	146
Numéro de publication	18
DOI	https://doi.org/10.1002/ajmg.a.32356
Statut de publication	Published - sept. 15 2008
Publié à l'externe	Oui

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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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.",

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AU - Chitayat, David

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AB - 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.

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Williams syndrome in a preterm infant with phenotype of Alagille syndrome

Résumé

ASJC Scopus Subject Areas

PubMed: MeSH publication types

Accès au document

Autres fichiers et liens

Empreinte numérique

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