Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2

被引：162

作者：

Ballif, Blake C.

Hornor, Sara A.

Jenkins, Elizabeth

Madan-Khetarpal, Suneeta

Surti, Urvashi

Jackson, Kelly E.

Asamoah, Alexander

Brock, Pamela L.

Gowans, Gordon C.

Conway, Robert L.

Graham, John M., Jr.

Medne, Livija

Zackai, Elaine H.

Shaikh, Tamim H.

Geoghegan, Joel

Selzer, Rebecca R.

Eis, Peggy S.

Bejjani, Bassem A.

Shaffer, Lisa G. ^{[1
]}

机构：

[1] Signature Genom Labs, Spokane, WA 99202 USA

[2] Washington State Univ, Hlth Res & Educ Ctr, Spokane, WA 99210 USA

[3] Childrens Hosp Pittsburgh, Pittsburgh, PA 15213 USA

[4] Univ Pittsburgh, Dept Pathol, Pittsburgh, PA 15260 USA

[5] Magee Womens Hosp, Pittsburgh, PA 15213 USA

[6] Weisskopf Child Evaluat Ctr, Louisville, KY 40202 USA

[7] Cedars Sinai Med Ctr, Los Angeles, CA 90048 USA

[8] Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA

[9] NimbleGen Syst, Madison, WI 53711 USA

[10] Sacred Heart Med Ctr, Spokane, WA 99204 USA

来源：

NATURE GENETICS | 2007年 / 39卷 / 09期

关键词：

D O I：

10.1038/ng2107

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We have identified a recurrent de novo pericentromeric deletion in 16p11.2 - p12.2 in four individuals with developmental disabilities by microarray- based comparative genomic hybridization analysis. The identification of common clinical features in these four individuals along with the characterization of complex segmental duplications flanking the deletion regions suggests that nonallelic homologous recombination mediated these rearrangements and that deletions in 16p11.2 - p12.2 constitute a previously undescribed syndrome.

引用

页码：1071 / 1073

页数：3

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