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一名男性自闭症患者存在一条涉及 6 号、10 号和 21 号染色体的复杂重排，其 21q21.1-q21.3 区域发生了一个 8.8Mb 的从头缺失。

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.

机构信息

Division of Human Genetics, The Children's Hospital of Philadelphia, 1002 ARC, 3615 Civic Center Blvd., Philadelphia, PA 19104, USA.

出版信息

Am J Med Genet A. 2010 Jan;152A(1):196-202. doi: 10.1002/ajmg.a.33176.

DOI:10.1002/ajmg.a.33176
PMID:20034085
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2801886/
Abstract

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.

摘要

我们在此报告一例表型正常的男性患者，患有广泛发育障碍，经检测发现其存在一个新发的、明显平衡的复杂重排，涉及染色体 6、10 和 21：46,XY,ins(21;10)(q11.2;p11.2p13)t(6;21)(p23;q11.2)。进一步通过高密度寡核苷酸微阵列分析，显示 21q21.1-q21.3 存在一个 8.8Mb 的杂合性缺失。有趣的是，该缺失位于染色体 21 的易位断点远端。该缺失涉及 19 个基因，包括与正常大脑发育和功能相关的 NCAM2 和 GRIK1，它们都被认为是自闭症和其他神经行为障碍的候选基因。该病例强调了全基因组微阵列分析在检测具有明显平衡复杂重排和异常表型的患者拷贝数改变方面的效用。

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