Suppr超能文献

从携带异常基因的父亲那里遗传而来的10号染色体部分三体。

Partial trisomy of chromosome 10 inherited from a carrier father.

作者信息

Suresh S, Suresh I, Lakshminarayana P, Jabeen G, Rajesh K

机构信息

Mediscan Systems Prenatal Diagnosis & Fetal Therapy Centre, Madras.

出版信息

Indian J Pediatr. 1995 Sep-Oct;62(5):615-8. doi: 10.1007/BF02761892.

Abstract

Partial trisomy of chromosome 10q is a very rare condition with only four cases having been reported int he literature. This report describes a neonate with symmetric growth retardation and multiple dysmorphic features, in whom G-banded chromosomal analysis revealed a partial trisomy of chromosome 10q (q2.4-q ter). The father was diagnosed as a carrier of a balanced translocation with a karyotype of 46, XY t(10.3) (q2.4L : pter). In patients with a bad obstetric history, genetic counselling prior to a new conception cna aid in early prenatal diagnosis of fetuses with recurrent chromosomal abnormalities by means of fetal tissue sampling.

摘要

10号染色体长臂部分三体是一种非常罕见的疾病,文献中仅报道过4例。本报告描述了一名患有对称性生长发育迟缓及多种畸形特征的新生儿,其G显带染色体分析显示为10号染色体长臂部分三体(q2.4-q末端)。父亲被诊断为平衡易位携带者,核型为46, XY t(10;3) (q2.4L : pter)。对于有不良产科史的患者,再次怀孕前进行遗传咨询有助于通过胎儿组织取样对患有复发性染色体异常的胎儿进行早期产前诊断。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验