Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2

被引：80

作者：

Ballif, B. C. ^{[1
]}

Theisen, A. ^{[1
]}

McDonald-McGinn, D. M. ^{[2
]}

Zackai, E. H. ^{[2
]}

Hersh, J. H. ^{[3
]}

Bejjani, B. A. ^{[1
,4
]}

Shaffer, L. G. ^{[1
]}

机构：

[1] Signature Genom Labs LLC, Spokane, WA 99207 USA

[2] Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA

[3] Univ Louisville, Dept Pediat, Louisville, KY 40292 USA

[4] Sacred Heart Med Ctr, Dept Mol Diagnost, Spokane, WA USA

来源：

CLINICAL GENETICS | 2008年 / 74卷 / 05期

关键词：

16q12.1; array CGH; microdeletion; novel syndrome; microarray; Townes-Brocks syndrome; SALL1;

D O I：

10.1111/j.1399-0004.2008.01094.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report the identification of microdeletions of 16q11.2q12.2 by microarray-based comparative genomic hybridization (aCGH) in two individuals. The clinical features of these two individuals include hypotonia, gastroesophageal reflux, ear anomalies, and toe deformities. Other features include developmental delay, mental retardation, hypothyroidism, and seizures. The identification of common clinical features in these two individuals and those of one other report suggests microdeletion of 16q12.1q12.2 is a rare, emerging syndrome. These results illustrate that aCGH is particularly suited to identify rare chromosome abnormalities in patients with apparently non-syndromic idiopathic mental retardation and birth defects.

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收藏

页码：469 / 475

页数：7

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