Microdeletion and Microduplication Syndromes
Microdeletion and Microduplication Syndromes
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DOI：
10.1007/978-1-61779-507-7_2
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发表时间：
2012-01-01
期刊：
影响因子：
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通讯作者：
Stankiewicz, Pawel
中科院分区：
文献类型：
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作者：
Vissers, Lisenka E. L. M.;Stankiewicz, Pawel
在过去的十年中，微阵列技术的广泛应用，包括寡核苷酸阵列比较基因组杂交（aCGH）和单核苷酸多态性（SNP）基因分型阵列，极大地改变了我们对全基因组结构变异的看法。亚微观基因组重排或拷贝数变异（CNV）已被证明是灵长类动物进化、个体和群体之间的表型差异以及对许多疾病的易感性的重要因素。由染色体微缺失和微重复引起的疾病，也称为基因组紊乱，正在迅速增加。微缺失和微重复存在于各种各样的表型患者中，包括孟德尔疾病以及常见的复杂特征，如发育迟缓/智力残疾、自闭症、精神分裂症、肥胖和癫痫。本章概述了常见的微缺失和微重复综合征及其临床表型，并讨论了基因组结构和分子形成机制。此外，对这些基因组重排如何传递异常表型提供了解释。
During the past decade, widespread use of microarray-based technologies, including oligonucleotide array comparative genomic hybridization (aCGH) and single nucleotide polymorphism (SNP) genotyping arrays have dramatically changed our perspective on genome-wide structural variation. Submicroscopic genomic rearrangements or copy-number variation (CNV) have proven to be an important factor responsible for primate evolution, phenotypic differences between individuals and populations, and susceptibility to many diseases. The number of diseases caused by chromosomal microdeletions and microduplications, also referred to as genomic disorders, has been increasing at a rapid pace. Microdeletions and microduplications are found in patients with a wide variety of phenotypes, including Mendelian diseases as well as common complex traits, such as developmental delay/intellectual disability, autism, schizophrenia, obesity, and epilepsy. This chapter provides an overview of common microdeletion and microduplication syndromes and their clinical phenotypes, and discusses the genomic structures and molecular mechanisms of formation. In addition, an explanation for how these genomic rearrangements convey abnormal phenotypes is provided.