Brief report: A case of autism associated with del(2)(q32.1q32.2) or (q32.2q32.3)
Brief report: A case of autism associated with del(2)(q32.1q32.2) or (q32.2q32.3)
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DOI：
10.1023/a:1022242807513
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发表时间：
2003-02-01
影响因子：
3.9
通讯作者：
Gill, M
中科院分区：
文献类型：
--
作者：
Gallagher, L;Becker, K;Gill, M
自闭症是一种神经发育障碍，出现在生命的前3年。赤字出现在沟通、社交和行为这三个核心领域。自闭症的原因尚不清楚，但临床遗传学研究显示，有强有力的证据支持遗传病因。分子遗传学研究报告了一些与候选基因的关联，从几个全基因组范围的连锁研究中已经出现了候选区域。在这里，我们报告了一例患有高功能自闭症的年轻男性的2号染色体缺失的自闭症临床病例。这一删除似乎与从连锁研究中出现的区域相一致。我们建议将其作为寻找自闭症基因的一个可能的候选区域。
Autism is a neurodevelopmental disorder presenting in the first 3 years of life. Deficits occur in the three core areas of communication, social interaction, and behavior. The causes of autism are unknown, but clinical genetic studies show strong evidence in favor of a genetic etiology. Molecular genetic studies report some association with candidate genes, and candidate regions have emerged from several genome-wide linkage studies. Here we report a clinical case of autism with a deletion on chromosome 2 in a young male with high-functioning autism. The deletion seems to correspond with regions emerging from linkage studies. We propose this as a possible candidate region in the search for autism genes.