Cytogenomic Aberrations in Congenital Cardiovascular Malformations

被引：4

作者：

Azamian, Mahshid ^{[1
]}

Lalani, Seema R. ^{[1
]}

机构：

[1] Baylor Coll Med, Dept Mol & Human Genet, One Baylor Plaza, Houston, TX 77030 USA

来源：

MOLECULAR SYNDROMOLOGY | 2016年 / 7卷 / 02期

关键词：

Aneuploidies; Congenital cardiovascular malformations; Cytogenomic abberations;

D O I：

10.1159/000445788

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Congenital cardiovascular malformations are the most common birth defects, with a complex multifactorial etiology. Genetic factors play an important role, illuminated by numerous cytogenetically visible abnormalities, as well as submicroscopic genomic imbalances affecting critical genomic regions in the affected individuals. Study of rare families with Mendelian forms, as well as emerging next-generation sequencing technologies have uncovered a multitude of genes relevant for human congenital cardiac diseases. It is clear that the complex embryology of human cardiac development, with an orchestrated interplay of transcription factors, chromatin regulators, and signal transduction pathway molecules can be easily perturbed by genomic imbalances affecting dosage-sensitive regions. This review focuses on chromosomal abnormalities contributing to congenital heart diseases and underscores several genomic disorders linked to human cardiac malformations in the last few decades. (C) 2016 S. Karger AG, Basel

引用

页码：51 / 61

页数：11

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