Suppr超能文献

一例因母亲9号与16号染色体易位导致喉闭锁和9号染色体部分三体的病例。

A case with laryngeal atresia and partial trisomy 9 due to maternal 9;16 translocation.

作者信息

Van den Boogaard M J, De Pater J, Hennekam R C

机构信息

Clinical Genetics Center Utrecht, The Netherlands.

出版信息

Genet Couns. 1991;2(2):83-91.

PMID:1781959
Abstract

A newborn with a partial trisomy 9 and a partial trisomy 16q is described. The child died shortly after birth because of laryngeal atresia. The chromosome anomaly was the result of a 3:1 segregation of a maternal translocation t(9;16) (q22;q24). The pertinent literature on both partial trisomy 9 and partial trisomy 16q is reviewed. All cases with partial trisomy 9 were either de novo or the result of a maternal translocation, possibly indicating the influence of imprinting on this chromosomal abnormality. The relationship between the laryngeal atresia and other features in the patient and the chromosome anomalies remains uncertain.

摘要

本文描述了一名患有部分9号染色体三体和部分16号染色体长臂三体(16q)的新生儿。该患儿出生后不久因喉闭锁死亡。染色体异常是由于母亲的t(9;16)(q22;q24)易位发生3:1分离所致。本文回顾了关于部分9号染色体三体和部分16号染色体长臂三体的相关文献。所有部分9号染色体三体的病例均为新发或母亲易位的结果,这可能表明印记对这种染色体异常有影响。患者的喉闭锁及其他特征与染色体异常之间的关系仍不确定。

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