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通过染色体微阵列检测到的新型微缺失综合征。

Novel microdeletion syndromes detected by chromosome microarrays.

作者信息

Slavotinek Anne M

机构信息

Department of Pediatrics, Division of Genetics, University of California, San Francisco, Box 0748, 533 Parnassus St., Room U585P, San Francisco, CA, 94143-0748, USA.

出版信息

Hum Genet. 2008 Aug;124(1):1-17. doi: 10.1007/s00439-008-0513-9. Epub 2008 May 30.

Abstract

Array comparative genomic hybridization (array CGH) has revolutionized the cytogenetic testing available for patients with learning disabilities who have "chromosomal" phenotypes with dysmorphic features and multiple anomalies. Screening large patient cohorts with mental retardation by array CGH has recently lead to the characterization of many novel microdeletion and microduplication syndromes, initially according to the shared cytogenetic aberrations, with secondary characterization of the corresponding phenotypes. This review provides a detailed clinical and molecular cytogenetic description of several of the most common of these aberrations. We have chosen to focus on patients in whom the cytogenetic abnormalities were principally described by array CGH, rather than by G-banded karyotyping or fluorescence in-situ hybridization. The syndromes that we have chosen include the 17q21.31 deletion and 17q21.31 duplication syndromes, 15q13.3 deletion syndrome, 16p11.2 deletion syndrome, 15q24 deletion syndrome, 1q41q42 deletion syndrome, 2p15p16.1 deletion syndrome and 9q22.3 deletion syndrome. In time, we hypothesize that at least some of these will become as clinically well characterized and recognizable to the clinician as the commoner microdeletion syndromes today. Although the full extent of the phenotypes is still evolving for many of these novel microdeletions, it is clear that array CGH has heralded an unparalleled era of discovery for clinical cytogenetics.

摘要

阵列比较基因组杂交(array CGH)已经彻底改变了针对患有学习障碍且具有“染色体”表型、畸形特征和多种异常的患者所进行的细胞遗传学检测。最近,通过阵列CGH对大量智力发育迟缓患者队列进行筛查,已导致许多新型微缺失和微重复综合征的特征描述,最初是根据共享的细胞遗传学畸变进行的,随后对相应表型进行了特征描述。本综述详细介绍了其中几种最常见畸变的临床和分子细胞遗传学情况。我们选择关注那些细胞遗传学异常主要通过阵列CGH而非G带核型分析或荧光原位杂交来描述的患者。我们选择的综合征包括17q21.31缺失和17q21.31重复综合征、15q13.3缺失综合征、16p11.2缺失综合征、15q24缺失综合征、1q41q42缺失综合征、2p15p16.1缺失综合征和9q22.3缺失综合征。我们推测,假以时日,其中至少一些综合征在临床上将像如今常见的微缺失综合征一样,被临床医生充分了解并能够识别。尽管对于许多这些新型微缺失,其表型的完整范围仍在演变,但很明显,阵列CGH已经为临床细胞遗传学开创了一个无与伦比的发现时代。

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