Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies
Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies
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DOI：
10.1002/ajmg.10159
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发表时间：
2002-02-01
期刊：
影响因子：
--
通讯作者：
Haan, E
中科院分区：
文献类型：
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作者：
Baker, E;Hinton, L;Haan, E
隐性亚端粒染色体异常已被认为是畸形和智力迟钝的重要原因。为了确定临床细胞遗传学实验室是否应该对这些畸变进行常规筛查，我们对250例特发性智力迟钝/发育迟缓患者进行了测试，这些患者要么是孤立的（53例），要么是在没有可识别综合征的情况下伴有畸形特征和/或畸形（197）。所有人的核型在550-850波段水平正常。亚端粒异常发生率分别为1/53（1.9%）和8/197（4.1%）。在一名患者中存在两种不同的异常：缺失（非遗传）和重复（遗传）。这10个观察到的畸变中可能有一个是罕见的、以前未报道的多态性，另一个是罕见的交叉杂交。我们的研究支持这样的观点，即隐性亚端粒重排是特发性智力迟钝/发育迟缓的重要原因，但阳性病例的表型多样性和相关染色体异常的广泛多样性都强调了临床细胞遗传学实验室的核心问题——选择最有生产力的患者基础进行这项有用的诊断测试。(C) 2001 Wiley-Liss, Inc。
Cryptic subtelomeric chromosome anomalies have been recognized as a significant cause of dysmorphology and mental retardation. To determine whether the clinical cytogenetics laboratory should screen routinely for these aberrations, we have tested 250 patients with idiopathic mental retardation/developmental delay, either isolated (53) or associated with dysmorphic features and/or malformations in the absence of a recognizable syndrome (197). All had normal karyotypes at the 550-850 band level. Subtelomeric anomalies were found in 1/53 of the first group (1.9%) and 8/197 of the second group (4.1%). In one patient two separate anomalies were present: a deletion (not inherited) and a duplication (inherited). It is possible that one of these 10 observed aberrations might represent a rare and previously unreported polymorphism and one a rare cross-hybridization. Our study supports the proposition that cryptic subtelomeric rearrangements are a significant cause of idiopathic mental retardation/ developmental delay, but both the diversity of the phenotypes of the positive cases and the wide diversity of their associated chromosome abnormalities emphasize the central problem for the clinical cytogenetics laboratory-that of choosing the most productive patient base for this useful diagnostic test. (C) 2001 Wiley-Liss, Inc.