4q35 deletion and 10p15 duplication associated with immunodeficiency

被引：9

作者：

Cingoz, S.

Bisgaard, A. M.

Bache, I.

Bryndorf, T.

Kirchoff, M.

Petersen, W.

Ropers, H. -H.

Maas, N.

Van Buggenhout, G.

Tommerup, N.

Tumer, Z.

机构：

[1] Univ Copenhagen, Wilhelm Johannsen Ctr Funct Genome Res, Dept Med Biochem & Genet, Fac Med, DK-2200 Copenhagen, Denmark

[2] Dokuz Eylul Univ, Fac Med, Izmir, Turkey

[3] Rigshosp, Chromosome Lab, Dept Clin Genet, DK-2100 Copenhagen, Denmark

[4] Cent Hosp Hillerod, Dept Pediat, Hillerod, Denmark

[5] Max Planck Inst Mol Genet, Berlin, Germany

[6] Katholieke Univ Leuven Hosp, Ctr Human Genet, Louvain, Belgium

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2006年 / 140A卷 / 20期

关键词：

arthritis; atopic dermatitis; chromosomal translocation; immune defect; deletion; 4q35; duplication; 10q15;

D O I：

10.1002/ajmg.a.31431

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report a familial cryptic reciprocal translocation between 4q35 and 10p15 leading to deletion of the terminal long arm of chromosome 4 and duplication of the terminal short arm of chromosome 10 in two family members who both have immunological disturbances and a similar facial appearance. The precise location and extent of the deletion and duplication was determined by fluorescence in situ hybridization (FISH). Furthermore, we investigated the deletion.

引用

页码：2231 / 2235

页数：5

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