The genetics of microdeletion and microduplication syndromes: an update.
The genetics of microdeletion and microduplication syndromes: an update.
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DOI：
10.1146/annurev-genom-091212-153408
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发表时间：
2014
影响因子：
8.7
通讯作者：
Mefford HC
中科院分区：
文献类型：
--
作者：
Watson CT;Marques-Bonet T;Sharp AJ;Mefford HC
染色体异常，包括微缺失和微重复，长期以来都与发育异常有关。早期发现依赖于常见的临床表现和通过标准核型分析或荧光原位杂交等特定检测检测染色体异常的能力。在过去的十年中，新的基因组技术的发展使得在整个人类基因组中更全面、公正地发现微缺失和微重复成为可能。利用染色体微阵列和最近的下一代测序技术，能够快速查询大量队列，这导致了与疾病相关的新型微缺失和微重复的快速发现，包括非常罕见但具有临床意义的重排。此外，观察到一些微缺失与几种神经发育障碍的风险相关，有助于我们理解这些疾病的共同遗传易感性。在这里，我们回顾了目前对微缺失/重复综合征的了解，特别关注复发性重排综合征。
Chromosomal abnormalities, including microdeletions and microduplications, have long been associated with abnormal developmental outcomes. Early discoveries relied on a common clinical presentation and the ability to detect chromosomal abnormalities by standard karyotype analysis or specific assays such as fluorescence in situ hybridization. Over the past decade, the development of novel genomic technologies has allowed more comprehensive, unbiased discovery of microdeletions and microduplications throughout the human genome. The ability to quickly interrogate large cohorts using chromosome microarrays and, more recently, next-generation sequencing has led to the rapid discovery of novel microdeletions and microduplications associated with disease, including very rare but clinically significant rearrangements. In addition, the observation that some microdeletions are associated with risk for several neurodevelopmental disorders contributes to our understanding of shared genetic susceptibility for such disorders. Here, we review current knowledge of microdeletion/duplication syndromes, with a particular focus on recurrent rearrangement syndromes.
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影响因子：
17.7
作者：
Bearden, CE;Jawad, AF;Simon, TJ
通讯作者：
Simon, TJ
来自1,092个人基因组的遗传变异的综合图。
影响因子：
64.8
作者：
通讯作者：
--
影响因子：
4
作者：
Ben-Shachar S;Lanpher B;German JR;Qasaymeh M;Potocki L;Nagamani SC;Franco LM;Malphrus A;Bottenfield GW;Spence JE;Amato S;Rousseau JA;Moghaddam B;Skinner C;Skinner SA;Bernes S;Armstrong N;Shinawi M;Stankiewicz P;Patel A;Cheung SW;Lupski JR;Beaudet AL;Sahoo T
通讯作者：
Sahoo T
影响因子：
3.5
作者：
Antonacci F;Kidd JM;Marques-Bonet T;Ventura M;Siswara P;Jiang Z;Eichler EE
通讯作者：
Eichler EE
影响因子：
56.9
作者：
Bailey, JA;Gu, ZP;Eichler, EE
通讯作者：
Eichler, EE