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首页> 外文期刊>The Lancet >Subtle chromosomal rearrangements in children with unexplained mental retardation (see comments)
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Subtle chromosomal rearrangements in children with unexplained mental retardation (see comments)

机译：患有无法解释的智力低下儿童的染色体微妙重排（请参阅评论）

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摘要

BACKGROUND: No explanation for moderate to severe mental retardation is apparent in about 40% of cases. Although small chromosomal rearrangements may account for some undiagnosed cases, a lack of genome-wide screening methods has made it impossible to ascertain the frequency of such abnormalities. METHODS: A fluorescence in-situ hybridisation (FISH) test was used to examine the integrity of chromosome ends in 284 children with unexplained moderate to severe retardation, and in 182 children with unexplained mild retardation. 75 normal men were also tested. When a chromosomal rearrangement was found, its size was estimated, and members of the child's family were investigated. FINDINGS: Subtle chromosomal abnormalities occurred with a frequency of 7.4% in the children with moderate to severe mental retardation, and of 0.5% in the children with mild retardation. The abnormalities had an estimated population prevalence of 2.1 per 10,000, and were familial in almost half of cases. INTERPRETATION: Once recognisable syndromes have been excluded, abnormalities that include the ends of chromosomes are the commonest cause of mental retardation in children with undiagnosed moderate to severe mental retardation. Owing to the high prevalence of familial cases, screening for subtle chromosomal rearrangements is warranted in children with unexplained moderate to severe mental retardation.
机译：背景：在大约40％的病例中，没有任何关于中度至重度智力低下的解释。尽管较小的染色体重排可能会导致一些未确诊的病例，但由于缺乏全基因组筛选方法，因此无法确定此类异常的发生频率。方法：采用荧光原位杂交（FISH）测试检查了284例原因不明的中度至重度发育迟缓儿童和182例原因不明的轻度发育迟缓儿童的染色体末端完整性。还测试了75名正常男性。当发现染色体重排时，估计其大小，并对孩子的家庭成员进行调查。结果发现，中度至重度智力低下儿童的染色体异常发生率为7.4％，轻度智力低下的儿童为0.5％。据估计，该异常人群的患病率为每10,000人2.1例，在几乎一半的病例中是家族性的。解释：一旦排除了可识别的综合症，包括染色体末端在内的异常是未诊断为中度至重度智力低下儿童的智力低下的最常见原因。由于家族病例的患病率很高，因此有必要对原因不明的中度至重度智力低下的儿童进行细微的染色体重排筛查。

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