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首页> 外文期刊>Journal of genetics >Williamsa??Beuren syndrome in Mexican patients confirmed by FISH and assessed by aCGH
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Williamsa??Beuren syndrome in Mexican patients confirmed by FISH and assessed by aCGH

机译：威廉姆斯？墨西哥患者的Beuren综合征被鱼证实并通过ACGH评估

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Williamsa??Beuren syndrome (WBS) has a prevalence of 1/7500a??20000 live births and results principally from a de novo deletion in 7q11.23 with a length of 1.5 Mb or 1.8 Mb. This study aimed to determine the frequency of 7q11.23 deletion, size of the segment lost, and involved genes in 47 patients with a clinical diagnosis of WBS and analysed by fluorescence in situ hybridization (FISH); among them, 31 had the expected deletion. Micro-array comparative genomic hybridization (aCGH) confirmed the loss in all 18 positive-patients tested: 14 patients had a 1.5 Mb deletion with the same breakpoints at 7q11.23 (hg19: 72726578a??74139390) and comprising 24 coding genes from TRIM50 to GTF2I. Four patients showed an atypical deletion: two had a 1.6Mb loss encompassing 27 coding genes, from NSUN5 to GTF2IRD2; another had a 1.7 Mb deletion involving 27 coding genes, from POM121 to GTF2I; the remaining patient presented a deletion of 1.2 Mb that included 21 coding genes from POM121 to LIMK1. aCGH confirmed the lack of deletion in 5/16 negative-patients by FISH. All 47 patients had the characteristic facial phenotype of WBS and 45 of 47 had the typical behavioural and developmental abnormalities. Our observations further confirm that patients with a classical deletion present a typical WBS phenotype, whereas those with a high (criteria of the American Association of Pediatrics, APP) clinical scorebut lacking the expected deletion may harbour an ELN point mutation. Overall, the concomitant CNVs appeared to be incidental findings.
机译：Williammsa ?? Beuren综合征（WBS）的患病率为1/7500A？20000年的活产，主要来自7Q11.23中的De Novo删除，长度为1.5 MB或1.8 MB。本研究旨在确定7季度缺失的频率，细分损失的大小，并涉及47名患者的基因，临床诊断WBS的临床诊断，并通过荧光分析原位杂交（鱼）;其中，31人有预期的删除。微阵列对比基因组杂交（ACGH）证实了所有18名患者所测试的损失：14例患者在7Q11.23（HG19：72726578A的同一断点中有1.5 MB缺失（HG19：72726578A ?? 74139390），并包含来自TRIM50的24个编码基因到gtf2i。四名患者表现出非典型缺失：两种有1.6MB的损失包括27个编码基因，来自NSUN5至GTF2IRD2;另一个人缺少涉及27个编码基因的1.7 MB缺失，来自POM121至GTF2i;其余患者呈现1.2MB的缺失，其中包含来自POM121至Limk1的21个编码基因。 Acgh证实了鱼类5/16阴性患者缺失缺失。所有47名患者都有WBS的特征面部表型，45个中47个具有典型的行为和发育异常。我们的观察结果进一步证实，典型缺失的患者呈现典型的WBS表型，而那些具有缺乏预期删除的临床记分的高（美国儿科的标准，APP）临床记分可能涉及突出的突变。总的来说，伴随的CNV似乎是偶然的结果。

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