Williams syndrome in a preterm infant with phenotype of Alagille syndrome

被引：9

作者：

Shah, Prakesh S. ^{[2
]}

Murthy, Prashanth ^{[2
]}

Skidmore, David ^{[1
,3
]}

Shaffer, Lisa G. ^{[4
]}

Bejjani, Bassem A. ^{[4
]}

Chitayat, David ^{[1
,3
]}

机构：

[1] Univ Toronto, Mt Sinai Hosp, Prenatal Diag & Med Genet Program, Dept Obstet & Gynecol, Toronto, ON M5G 1X5, Canada

[2] Univ Toronto, Mt Sinai Hosp, Dept Pediat, Toronto, ON M5G 1X5, Canada

[3] Univ Toronto, Hosp Sick Children, Dept Pediat, Div Clin & Metab Genet, Toronto, ON M5G 1X5, Canada

[4] Signature Genom Labs LLC, Spokane, WA USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2008年 / 146A卷 / 18期

关键词：

microarray; phenotype; genotype;

D O I：

10.1002/ajmg.a.32356

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. (C) 2008 Wiley-Liss, Inc.

引用

页码：2407 / 2411

页数：5

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