• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Balkan journal of medical genetics: BJMG >A FAMILIAL CASE REPORT OF A 13;22 CHROMOSOMAL TRANSLOCATION WITH RECURRENT INTRACYTOPLASMIC SPERM INJECTION FAILURE
【24h】

A FAMILIAL CASE REPORT OF A 13;22 CHROMOSOMAL TRANSLOCATION WITH RECURRENT INTRACYTOPLASMIC SPERM INJECTION FAILURE

机译：一个家族病例报告13; 22染色体易位与复发性血晶体精子注射液

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

The importance of cytogenetic analysis in a family with reproductive failure in two siblings is highlighted, where two siblings and their mother presented with a balanced translocation between chromosomes 13; 22. The clinical evaluation had shown the female to be normal and the male to be oligoasthenoteratozoospermic despite repeated semen analysis. The couple was referred to our laboratory after three consecutive intracytoplasmic sperm injection (ICSI) failures at a local assisted reproductive technique (ART) center. Peripheral blood lymphocytes, obtained for karyotyping, were studied by a standard G-banding technique. Chromosomal analysis of the members of the pedigree, including the probands, showed the presence of the same translocation, t(13;22)(q21.2;q13.3), carried by three generations of the family. The sister and the mother of the proband had multiple spontaneous abortions in the first trimester. The spouses, when examined cytogenetically, were found to be normal. We propose the involvement of a balanced t(13;22)(q21.2;q13.3) chromosomal translocation in the pathogenesis of recurrent ART or spontaneous reproductive failures. Hence, it is suggested that all cases with structural chromosomal abnormalities be counseled prior to opting for ART and undergoing pre-implantation genetic diagnosis (PGD). This would prevent recurrent financial, physical and emotional stress in couples seeking ART.
机译：突出了两个兄弟姐妹生殖失败的家庭中细胞遗传学分析的重要性，其中两个兄弟姐妹及其母亲在染色体13之间呈现平衡的易位; 22.临床评价显示女性是正常的，并且雄性是寡替洛蒽醌，尽管重复精液分析。在局部辅助生殖技术（艺术）中心的三种连续血液节粒体注射（ICSI）失败后，这对夫妇被提及到我们的实验室。通过标准的G型配音技术研究了用于核型分型的外周血淋巴细胞。包括证据的血统成员的染色体分析显示，由三代家庭携带的相同易位，T（13; 22）（Q21.2; Q13.3）存在。姐姐和母亲的母亲在第一个三个月有多次自发堕胎。当检查细胞遗传学时，配偶被发现是正常的。我们提出了平衡T（13; 22）（Q21.2; Q13.3）染色体易位在复发性艺术或自发性生殖失败的发病机制中的累积。因此，建议在服用艺术和接受预注入的遗传诊断（PGD）之前咨询所有具有结构染色体异常的病例。这将防止寻求艺术的夫妻的经常性，身体和情感压力。

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