• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>American journal of medical genetics, Part A >A prenatal diagnosis of mosaic trisomy 5 reveals a postnatal complete uniparental disomy of chromosome 5 with multiple congenital anomalies
【24h】

A prenatal diagnosis of mosaic trisomy 5 reveals a postnatal complete uniparental disomy of chromosome 5 with multiple congenital anomalies

机译：马赛克三元体5的产前诊断揭示了染色体5的后期产后分解，具有多种先天性异常

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Mosaic trisomy 5 is a very rare condition in liveborns, with few cases reported in the last four decades. There are some reports of prenatally diagnosed mosaic trisomy 5 resulting in phenotypically normal offspring, suggesting a low level of mosaicism, but there are also reports associated with multiple congenital anomalies, cardiovascular malformations, and intrauterine growth restriction. We report an infant male diagnosed with mosaic trisomy 5 (5/15 cells) via amniocentesis. The patient was subsequently found to have uniparental disomy 5 (UPD5) by postnatal chromosome microarray, but high‐resolution chromosome analysis on peripheral blood did not identify trisomy 5. Dysmorphic features included a tall forehead with low anterior hairline, hypertelorism, low‐set ears, and a prominent nose and midface. Other anomalies included bilateral bifid thumbs, hypospadias, a perineal fistula, unilateral multicystic kidney, and decreased subcutaneous fat with loose skin. He had complex congenital heart disease consisting of ventricular and atrial septal defects and polyvalvular defects. The patient died at age one after a prolonged admission. We add this case to the literature with the added benefit of data from a postnatal microarray, which was not available in other cases, to broaden the phenotype of mosaic trisomy 5 and UPD5.With the current available technology, we stress the importance of postnatal genetic testing to confirm prenatal cytogenetic findings in order to further define such phenotypes. This will provide the most accurate information and counseling to affected families.
机译：马赛克三术5是终身罕见的疾病，少数四十年报告了很少。有一些预先诊断的马赛克三组织5报道导致表型正常后代，表明叶片状较低，但还有与多种先天性异常，心血管畸形和宫内生长限制相关的报道。我们通过羊膜穿刺术报告诊断患有马赛克三元体5（5/15细胞）的婴儿男性。随后发现患者通过出生后染色体微阵列具有发起分解的枯萎病5（UPD5），但对外周血的高分辨率染色体分析未识别三术5.多甲特征包括具有低前毛线的高额头，高速额度，低型耳朵和一个突出的鼻子和地下。其他异常包括双侧双歧拇指，腹期地血吸虫，病白瘘，单侧多象性肾，并用松弛皮肤减少皮下脂肪。他患有复杂的先天性心脏病，包括心室和心房隔膜缺陷和多瓣膜缺损。患者在延长入院后在1岁时死亡。我们将这种情况添加到文献中，通过从其他情况下提供的产后微阵列数据的增加的益处，以扩大马赛克三兆癣5和UPD5的表型。在目前的可用技术，我们强调了产后遗传遗传学的重要性测试以确认产前细胞遗传学发现，以进一步定义这种表型。这将为受影响的家庭提供最准确的信息和咨询。

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