• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Genetic testing and molecular biomarkers >A 14-Year Follow-Up of a Case Detected Prenatally of Partial Trisomy 13q21.32-qter and Monosomy 18q22.3-qter as a Result of a Maternal Complex Chromosome Rearrangement Involving Chromosomes 6, 13, and 18
【24h】

A 14-Year Follow-Up of a Case Detected Prenatally of Partial Trisomy 13q21.32-qter and Monosomy 18q22.3-qter as a Result of a Maternal Complex Chromosome Rearrangement Involving Chromosomes 6, 13, and 18

机译：14年随访的产前检测部分三倍体13 q21.32-qter和染色体18 q22.3-qter母亲复杂的结果染色体重排涉及染色体6,13日和18

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

A balanced complex chromosome rearrangement (CCR) involving three chromosomes is rare and may lead to different types of aneuploid germ cells. We report here a 14-year follow-up of a boy with a karyotype defined as 46,XY,der(18)46;13;18)(q21;q21.32;q22.3).ish der(18)(13qter+,18qter–) characterized by multiple congenital abnormalities, including distinctive minor facial anomalies, short neck, abnormalities of the extremities, anogenital abnormalities, flexion contractures, especially at extremities, and severe mental and growth retardation. Chromosome analysis in the mother showed a CCR involving chromosomes 6, 13, and 18. This CCR was the result of a three-break rearrangement, and the derivative chromosome 13 consisted of parts of chromosomes 18 and 13. The karyotype of the child was not balanced, and resulted in partial trisomy for 13q and partial monosomy for 18q detected prenatally by conventional and molecular cytogenetics. Although such a karyotype and its phenotype have not previously been reported, we have compared the clinical and cytogenetic data from our patient with previously described cases of partial trisomy 13q and monosomy 18q despite different break points. We are presenting a new CCR in a woman with normal phenotype with a history of four early abortions and a long follow-up of her malformed newborn with partial 13q trisomy and 18q monosomy.
机译：一个平衡的复杂的染色体重排(CCR)涉及三个染色体是罕见的和可能导致不同类型的非整倍体的生殖细胞。在这里报告14年随访的一个男孩核型定义为der (18) (13 qt + 18 qt -)的特征多种先天性异常,包括独特的小面部异常,脖子短,异常的四肢,肛门-生殖器异常,弯曲挛缩,特别是在四肢,严重的精神和增长缺陷。显示CCR涉及染色体6、13和18。这CCR是three-break的结果13号染色体重排,导数包括部分染色体18和13。核型的孩子是不平衡的导致部分三倍体13 q和部分在出生前染色体18问检测传统和分子细胞遗传学。这样的核型及其表型此前报道,我们比较了从我们的病人临床和细胞遗传学数据与之前描述部分三倍体13 q和染色体18 q尽管不同破发点。史的妇女与正常表现型4她的早期流产和长期随访畸形与部分13问三染色体细胞和新生18问染色体。

著录项

相似文献

  • 外文文献
  • 中文文献
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