13q13.1-q13.2 deletion in tetralogy of Fallot: Clinical report and a literature review

被引：7

作者：

Costain, Gregory ^{[1
]}

Silversides, Candice K. ^{[2
,3
]}

Marshall, Christian R. ^{[4
,5
]}

Shago, Mary ^{[4
,6
]}

Costain, Nicholas ^{[1
]}

Bassett, Anne S. ^{[1
,3
,7
]}

机构：

[1] Ctr Addict & Mental Hlth, Clin Genet Res Program, Toronto, ON M5S 2S1, Canada

[2] Toronto Gen Hosp, Toronto Congenital Cardiac Ctr Adults, Toronto, ON, Canada

[3] Univ Hlth Network, Div Cardiol, Dept Med, Toronto, ON, Canada

[4] Hosp Sick Children, Ctr Appl Genom, Toronto, ON M5G 1X8, Canada

[5] Hosp Sick Children, Program Genet & Genome Biol, Toronto, ON M5G 1X8, Canada

[6] Hosp Sick Children, Dept Pathobiol & Lab Med, Toronto, ON M5G 1X8, Canada

[7] Univ Toronto, Dept Psychiat, Toronto, ON, Canada

来源：

INTERNATIONAL JOURNAL OF CARDIOLOGY | 2011年 / 146卷 / 02期

基金：

加拿大健康研究院;

关键词：

Tetralogy of Fallot; Congenital heart defect; Chromosome deletion; Chromosome; 13; Copy number variation; CONGENITAL HEART-DISEASE; PETERS-PLUS SYNDROME; INTERSTITIAL DELETION; GENETIC SYNDROMES; 22Q11.2; DELETION; CYTOGENETIC CHARACTERIZATION; BILATERAL RETINOBLASTOMA; RECOGNIZABLE PATTERN; ESOPHAGEAL ATRESIA; VATER-ASSOCIATION;

D O I：

10.1016/j.ijcard.2010.05.070

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Recent advances in microarray technology are helping to identify more genetic anomalies associated with tetralogy of Fallot and other congenital heart defects. We report on a 24-year-old woman with a syndromic form of tetralogy of Fallot who was found to have a novel de novo deletion of the proximal long arm of chromosome 13. History of developmental delay and learning difficulties, mild dysmorphic facial features, and anal atresia prompted genetic investigations. A review of the literature on deletions that overlap this region showed that several were associated with major congenital heart defects. The results suggest that the 13q13.1-q13.2 region may harbour a gene or genes important in cardiac development. (C) 2010 Elsevier Ireland Ltd. All rights reserved.

引用

页码：134 / 139

页数：6

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