Chromosomal abnormalities in a clinic sample of individuals with autistic disorder
Chromosomal abnormalities in a clinic sample of individuals with autistic disorder
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DOI：
10.1097/00041444-200106000-00001
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发表时间：
2001-06-01
影响因子：
0.9
通讯作者：
Patil, SR
中科院分区：
文献类型：
--
作者：
Wassink, TH;Piven, J;Patil, SR
我们研究了来自最大的自闭症个体样本的数据，这些个体已经进行了核型分析，目的是为寻找自闭症基因提供更多的信息。自1980年以来，在爱荷华州大学儿童和青少年精神病学诊所被诊断患有自闭症的个人与爱荷华州大学细胞遗传学实验室数据库交叉引用。我们确定了转介细胞遗传学检测的个体数量，以及其中发现大体细胞学异常的数量。审查了所有此类异常病例的病历。在1980年至1998年期间，在诊所就诊的898名受试者被诊断患有自闭症。其中，278例（30.1%）进行了细胞学研究，其中25例（9.0%）发现染色体异常。最常见的染色体异常是脆性X、其他性染色体异常和15号染色体异常。这些数据支持染色体异常对少数但重要的自闭症病例的贡献，并强调了15号染色体和性染色体的参与。Psychiatr Genet 11：57-63（C）2001 Lippincott威廉姆斯&威尔金斯.
We examined data from the largest reported sample of autistic individuals who have been karyotyped with the aim of providing additional information in the search for autism disease genes. Individuals seen in the University of Iowa's Child and Adolescent Psychiatry Clinic since 1980 who had been diagnosed with autism were cross-referenced with the University of Iowa's Cytogenetics Laboratory database. We determined the number of individuals referred for cytogenetic testing and, of these, the number found to have gross cytological abnormalities. Medical records were reviewed for all cases with such abnormalities. Between 1980 and 1998, 898 subjects seen in the clinic were diagnosed with autism. Of these, 278 (30.1%) were referred for cytological studies; 25 (9.0%) of these were found to have chromosomal abnormalities. The most common chromosomal abnormalities were Fragile X, other sex chromosome anomalies, and chromosome 15 abnormalities. These data support the contribution of chromosomal abnormalities to a small but significant number of cases of autism, and highlight the involvement of chromosome 15 and the sex chromosomes. Psychiatr Genet 11:57-63 (C) 2001 Lippincott Williams & Wilkins.