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本文引用的文献

1
MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions.对一组伴有智力障碍的综合征进行多重连接依赖探针扩增（MLPA）分析发现，在5.8%有智力障碍和畸形特征的患者中存在失衡，包括索托斯综合征和威廉姆斯-博伦综合征区域的重复。
Eur J Med Genet. 2007 Jan-Feb;50(1):33-42. doi: 10.1016/j.ejmg.2006.10.002. Epub 2006 Oct 10.
2
Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus.左颞叶皮质发育异常可能解释威廉姆斯-贝伦综合征位点重复患者严重的表达性语言发育迟缓。
Eur J Hum Genet. 2007 Jan;15(1):62-7. doi: 10.1038/sj.ejhg.5201730. Epub 2006 Oct 31.
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Autism and Williams syndrome: a case report.自闭症与威廉姆斯综合征：一例报告。
World J Biol Psychiatry. 2006;7(3):186-8. doi: 10.1080/15622970600584221.
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Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders.基于阵列的比较基因组杂交技术鉴定出患有综合征型自闭症谱系障碍患者中隐匿性染色体重排的高频率。
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Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes.威廉斯-贝伦综合征患者的亚显微缺失影响非半合子侧翼基因的表达水平。
Am J Hum Genet. 2006 Aug;79(2):332-41. doi: 10.1086/506371. Epub 2006 Jun 23.
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Prevalence of psychiatric disorders in 4 to 16-year-olds with Williams syndrome.患有威廉姆斯综合征的4至16岁儿童精神疾病的患病率。
Am J Med Genet B Neuropsychiatr Genet. 2006 Sep 5;141B(6):615-22. doi: 10.1002/ajmg.b.30344.
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Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behaviour.威廉姆斯综合征的神经机制：洞察基因对认知和行为影响的独特窗口。
Nat Rev Neurosci. 2006 May;7(5):380-93. doi: 10.1038/nrn1906.
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Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11.涉及7q11.23、15q11 - q13和22q11的微缺失和微重复综合征的亲本及染色体起源
Eur J Hum Genet. 2006 Jul;14(7):831-7. doi: 10.1038/sj.ejhg.5201617. Epub 2006 Apr 12.
9
Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications.发育迟缓及/或先天性畸形患者中由重复子侧翼（或无侧翼）区域的拷贝数变异；相互及部分威廉姆斯-贝伦重复的检测
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GTF2IRD1 in craniofacial development of humans and mice.GTF2IRD1在人类和小鼠颅面发育中的作用
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一名患有7q11重复的患者出现自闭症、语言发育迟缓及智力障碍。

Autism, language delay and mental retardation in a patient with 7q11 duplication.

作者信息

Depienne C, Heron D, Betancur C, Benyahia B, Trouillard O, Bouteiller D, Verloes A, Leguern E, Leboyer M, Brice A

机构信息

INSERM U679 (formerly U289), Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

出版信息

BMJ Case Rep. 2009;2009. doi: 10.1136/bcr.05.2009.1911. Epub 2009 Jun 18.

DOI:10.1136/bcr.05.2009.1911
PMID:21686962
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3028180/
Abstract

Chromosomal rearrangements are found in a subset of patients with autism. Duplications involving loci associated with behavioural disturbances constitute an especially good candidate mechanism. The Williams-Beuren critical region (WBCR), located at 7q11.23, is commonly deleted in Williams-Beuren microdeletion syndrome (WBS). However, only four patients with a duplication of the WBCR have been reported to date. Here, 206 patients with autism spectrum disorders were screened for the WBCR duplication by quantitative microsatellite analysis and multiple ligation-dependent probe amplification. One male patient with a de novo interstitial duplication of the entire WBCR of paternal origin was identified. The patient had autistic disorder, severe language delay and mental retardation, with mild dysmorphism. The present report concerns the first patient with autistic disorder and a WBCR duplication. This observation indicates that the 7q11.23 duplication could be involved in complex clinical phenotypes, ranging from developmental or language delay to mental retardation and autism.

摘要

在一部分自闭症患者中发现了染色体重排。涉及与行为障碍相关基因座的重复构成了一种特别好的候选机制。位于7q11.23的威廉姆斯-贝伦关键区域（WBCR）在威廉姆斯-贝伦微缺失综合征（WBS）中通常会被缺失。然而，迄今为止，仅有4例WBCR重复的患者被报道。在此，通过定量微卫星分析和多重连接依赖探针扩增对206例自闭症谱系障碍患者进行了WBCR重复筛查。鉴定出1例男性患者，其具有源自父亲的整个WBCR的新生间质性重复。该患者患有自闭症谱系障碍、严重语言发育迟缓及智力障碍，伴有轻度畸形。本报告涉及首例患有自闭症谱系障碍且存在WBCR重复的患者。这一观察结果表明，7q11.23重复可能与从发育或语言迟缓到智力障碍和自闭症等复杂临床表型有关。