...
首页> 外文期刊>Journal of genetics >Williams-Beuren syndrome in Mexican patients confirmed by FISH and assessed by aCGH
【24h】

Williams-Beuren syndrome in Mexican patients confirmed by FISH and assessed by aCGH

机译:墨西哥患者的威廉姆斯 - Beuren综合征被鱼证实并通过ACGH评估

获取原文
获取原文并翻译 | 示例
           

摘要

Williams-Beuren syndrome (WBS) has a prevalence of 1/7500-20000 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: 72726578-74139390) and comprising 24 coding genes fromTRIM50 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 typicalWBS phenotype, whereas those with a high (criteria of the American Association of Pediatrics, APP) clinical score but lacking the expected deletion may harbour an ELN point mutation. Overall, the concomitant CNVs appeared to be incidental findings.
机译:Williams-Beuren综合征(WBS)的活跃率为1/7500-20000活产出生物,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,细分损失的尺寸,并涉及47例患者的基因,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名患者的损失:14例患者在7Q11.23(HG19:72726578-74139390)中具有相同的断裂点,并将来自到GTF2I的24个编码基因缺失,并包含24个编码基因。四名患者表现出非典型缺失:两种具有1.6MB的损失,包括27个编码基因,从NSUN5到GTF2IRD2;另一种缺失涉及27个编码基因的1.7 MB缺失,来自POM121至GTF2i;其余患者提出了1.2MB的缺失,其中包括来自POM121的21个编码基因到Limk1。 ACGH证实了缺乏鱼类的5/16阴性患者缺失。所有47名患者都有WBS的特征面部表型,45个中有45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了典型的杂脑表型,而那些具有高(美国儿科的标准,APP)临床评分但缺乏预期删除可能涉及ELN点突变。总的来说,伴随的CNV似乎是偶然的结果。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱:kefu@zhangqiaokeyan.com

京公网安备:11010802029741号 ICP备案号:京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有
  • 客服微信

  • 服务号