Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay
Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay
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DOI：
10.1002/ajmg.a.31541
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发表时间：
2007-01-15
影响因子：
2
通讯作者：
Tzschach, Andreas
中科院分区：
文献类型：
--
作者：
Erdogan, Fikret;Ullmann, Reinhard;Tzschach, Andreas
高分辨率阵列CGH利用覆盖整个基因组的一组重叠的BAC和PAC克隆（“瓷砖路径”）是快速检测亚显微镜染色体缺失或重复的强大新颖工具。我们描述了一egbase分辨率的成功应用整个基因组“瓷砖路径” BAC阵列，以确认和表征从头开始的染色体15染色体上的删除。删除的大小为5.3 Mb，位于染色体手15Q14中，位于prader的染色体手15q14中 - 威尔利/安吉尔曼地区。受影响的女孩患有心脏缺陷，left裂，反复感染和发育延迟。与GTG谱带相反，Array CGH确定了已删除基因的确切数量，因此允许鉴定left裂的候选基因（Grem1，Cx36，Meis2，Meis2），先天性心脏缺陷（ACTC，GREM1，CX36，MEIS2，MEIS2）和精神摇摆不定（ARHGAP11A，CHRNA7，CHRM5）。 （c）2006 Wiley-Liss，Inc。
High-resolution array CGH utilizing sets of overlapping BAC and PAC clones ("tiling path") covering the whole genome is a powerful novel tool for fast detection of submicroscopic chromosome deletions or duplications. We describe the successful application of a Submegbase resolution whole genome "tiling path" BAC array to confirm and characterize a de novo interstitial deletion of chromosome 15. The deletion has a size of 5.3 Mb and is located within chromosome hand 15q14, distal to the Prader-Willi/Angelman region. The affected girl had a heart defect, cleft palate, recurrent infections, and developmental delay. In contrast to GTG banding, array CGH determined the exact number of deleted genes and thus allowed the identification of candidate genes for cleft palate (GREM1, CX36, MEIS2), congenital heart defect (ACTC, GREM1, CX36, MEIS2), and mental retardation (ARHGAP11A, CHRNA7, CHRM5). (c) 2006 Wiley-Liss, Inc.