Systematic screening for subtelomeric anomalies in a clinical sample of autism.
Systematic screening for subtelomeric anomalies in a clinical sample of autism.
复制标题
对自闭症临床样本中的亚端粒异常进行系统筛查。
DOI：
10.1007/s10803-006-0196-9
复制
发表时间：
2007
影响因子：
3.9
通讯作者：
Patil,ShivanandR
中科院分区：
文献类型：
--
作者：
Wassink,ThomasH;Losh,Molly;Piven,Joseph;Sheffield,ValC;Ashley,Elizabeth;Westin,ErikR;Patil,ShivanandR
高分辨率染色体核型分析可在5-10%的自闭症病例中发现细胞遗传学异常。然而，核型分析可能无法检测到染色体亚端粒的异常，而亚端粒是基因丰富的区域，容易出现异常。我们评估了针对亚端粒的FISH探针组是否可以检测出104名来自一般临床人群的广泛性发育障碍（PDDs）患者的核型分析所识别的异常。核型分析检测到四个异常，而没有额外的异常检测到亚端粒FISH或针对15q11.2q13或22q11.2在我们的样本亚组的探针。我们的结论是，虽然染色体核型分析可能比以前假设的更广泛地适用于自闭症，亚端粒FISH似乎不太可能是一个有用的筛查工具，为PDD人群。
High-resolution karyotyping detects cytogenetic anomalies in 5–10% of cases of autism. Karyotyping, however, may fail to detect abnormalities of chromosome subtelomeres, which are gene rich regions prone to anomalies. We assessed whether panels of FISH probes targeted for subtelomeres could detect abnormalities beyond those identified by karyotyping in 104 individuals with Pervasive Developmental Disorders (PDDs) drawn from a general clinical population. Four anomalies were detected by karyotyping, while no additional anomalies were detected by subtelomere FISH or by probes targeted for 15q11.2q13 or 22q11.2 in subgroups of our sample. We conclude that while karyotyping may be more broadly indicated for autism than previously supposed, subtelomere FISH appears less likely to be a useful screening tool for unselected PDD populations.