Suppr超能文献

两例与智力发育迟缓相关的8号染色体短臂异常(8p+)病例。

Two cases of an abnormal short arm of chromosome 8 (8p+) associated with mental retardation.

作者信息

Hongell K, Knuutila S, Westermarck T

出版信息

Clin Genet. 1978 Feb;13(2):237-40. doi: 10.1111/j.1399-0004.1978.tb04256.x.

Abstract

Morphologically similar chromosome anomalies, 8p+, were found in two inmates of an institution for the mentally retarded. Analysis of the G-and R-banding patterns showed that the first subject had a duplication of region p2 of chromosome 8; the second subject had an insertion of an unidentified chromosome segment at 8p11. Both subjects were severely mentally retarded. The physical malformations were more severe in the second subject than in the first, who had only minor signs. The dermatoglyphics are recorded.

摘要

在一所智障机构的两名 inmates 中发现了形态学上相似的染色体异常,即 8 号染色体短臂增加(8p+)。对 G 带和 R 带模式的分析表明,第一个受试者 8 号染色体 p2 区域存在重复;第二个受试者在 8p11 处插入了一个不明染色体片段。两名受试者均严重智障。第二名受试者的身体畸形比第一名更严重,第一名只有轻微症状。记录了皮纹情况。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验