A de novo 8.8-Mb Deletion of 21q21.1-q21.3 in an Autistic Male With a Complex Rearrangement Involving Chromosomes 6, 10, and 21
A de novo 8.8-Mb Deletion of 21q21.1-q21.3 in an Autistic Male With a Complex Rearrangement Involving Chromosomes 6, 10, and 21
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DOI：
10.1002/ajmg.a.33176
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发表时间：
2010-01-01
影响因子：
2
通讯作者：
Shaikh, Tamim H.
中科院分区：
文献类型：
--
作者：
Haldeman-Englert, Chad R.;Chapman, Kimberly A.;Shaikh, Tamim H.
本文报告一例外貌正常的男性弥漫性发育障碍患者，其染色体6、10和21：46，XY，INS(21；10)(q11.2；p11.2p13)t(6；21)(p23；q11.2)的重新出现明显平衡的复杂重排。进一步用高密度寡核苷酸芯片分析，发现在21q21.1-q21.3处有8.8-Mb杂合性缺失。有趣的是，该缺失位于21号染色体上易位断裂点的远端。该缺失涉及包括NCAM2和GRIK1在内的19个基因，这两个基因都与正常的大脑发育和功能有关，被认为是自闭症和其他神经行为障碍的可能候选基因。这一案例强调了全基因组微阵列分析在检测具有明显平衡的复杂重排和异常表型的患者中拷贝数改变的实用性。(C)2009年Wiley-Liss，Inc.
We report here on a normal-appearing male with pervasive developmental disorder who was found to have a de novo, apparently balanced complex rearrangement involving chromosomes 6, 10, and 21: 46,XY,ins(21;10)(q11.2;p11.2p13)t(6;21)(p23;q11.2). Further analysis by high-density oligonucleotide microarray was performed, showing an 8.8-Mb heterozygous deletion at 21q21.1-q21.3. Interestingly, the deletion is distal to the translocation breakpoint on chromosome 21. The deletion involves 19 genes, including NCAM2 and GRIK1, both of which are associated with normal brain development and function, and have been considered as possible candidate genes in autism and other neurobehavioral disorders. This case underscores the utility of genomewide microarray analysis for the detection of copy number alterations in patients with apparently balanced complex rearrangements and abnormal phenotypes. (C) 2009 Wiley-Liss, Inc.