• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Molecular syndromology >17p13.3 Microdeletion: Insights on Genotype-Phenotype Correlation
【24h】

17p13.3 Microdeletion: Insights on Genotype-Phenotype Correlation

机译：17p13.3微缺失：基因型与表型相关性的见解

获取原文
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Microdeletions in the chromosomal region 17p13.3 are associated with neuronal migration disorders, and PAFAB1H1 is the main gene involved. The largest genomic imbalances, including the YWHAE and CRK genes, cause more severe structural abnormalities of the brain and other associated dysmorphic features. Here, we describe a 3-year-old boy with a microdeletion in 17p13.3 presenting with minor facial dysmorphisms, a cleft palate, neurodevelopmental delay, and behavioral disorder with no structural malformation of the brain. The patient was evaluated by a clinician using a standard protocol. Laboratory investigation included GTG-banding, whole-genome AGH, and array-CGH. Whole-genome AGH and array-CGH analysis identified an estimated 2.1-Mb deletion in the 17p13.3 region showing haploinsufficiency of the YWHAE, CRK, H1C1, and OVCA1 genes and no deletion of PAFAH1B1. The complex gene interaction on brain development and function is illustrated in the genotype-phenotype correlation described here. This report reinforces the importance of the 17p13.3 region in developmental abnormalities and highlights the weak implication of the HIC1 and OVCA1 genes in palatogenesis.
机译：染色体区域17p13.3中的微缺失与神经元迁移失调有关，而PAFAB1H1是主要基因。最大的基因组失衡，包括YWHAE和CRK基因，会导致更严重的大脑结构异常和其他相关的畸形特征。在这里，我们描述了一个3岁男孩，在17p13.3中存在微缺失，表现出轻微的面部畸形，pa裂，神经发育迟缓和行为障碍，没有大脑的结构畸形。临床医生使用标准方案对患者进行了评估。实验室研究包括GTG带，全基因组AGH和array-CGH。全基因组AGH和阵列CGH分析鉴定出17p13.3区域估计有2.1 Mb缺失，显示YWHAE，CRK，H1C1和OVCA1基因的单倍缺乏，PAFAH1B1没有缺失。关于脑发育和功能的复杂基因相互作用在此处描述的基因型与表型相关性中得到了说明。该报告强调了17p13.3区域在发育异常中的重要性，并强调了HIC1和OVCA1基因在成核中的微弱影响。

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