• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Case Reports in Genetics >Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3)
【24h】

Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3)

机译：患缺失Del（4）（q31.3）的新生儿的新型血管畸形

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

摘要

We report on a newborn male patient with a terminal deletion in the long arm of the chromosome 4 with a congenital heart defect unreported before in association with this syndrome. The patient had multiple congenital anomalies including a pointed duplicated fingernail, low set posteriorly rotated ears, large anterior fontanel, micrognathia, glabellar capillary vascular malformation, and Interrupted Aortic Arch type C. The patient died due to multiple congenital malformations; a peripheral chromosome analysis showed 46, XY, del(4)(q31.3)de novo. The only reported case with the same deletion was a male newborn that exhibited the pattern of minor anomalies of deletion 4q31 syndrome. The parents were cytogenetically normal. We compare clinical signs to other cases with a deletion in long arm of chromosome 4.
机译：我们报道了一名新生儿男性患者，该患者在4号染色体的长臂上终末缺失，先天性心脏缺陷未曾报道，并伴有该综合征。该患者有多种先天性畸形，包括尖锐的双指指甲，低位的后旋转耳朵，较大的前font，微棘，毛细血管毛细血管畸形和C型主动脉弓支破裂。外围染色体分析显示46，XY，del（4）（q31.3）de novo。唯一报告的具有相同缺失的病例是男性新生儿，表现出缺失4q31综合征的轻微异常模式。父母的细胞遗传学正常。我们将其他体征与4号染色体长臂缺失的临床体征进行比较。

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