Suppr超能文献

9号染色体部分三体和完全三体:9号染色体三体综合征的描述

Partial and complete trisomy 9: delineation of a trisomy 9 syndrome.

作者信息

Sutherland G R, Carter R F, Morris L L

出版信息

Hum Genet. 1976 May 19;32(2):133-40. doi: 10.1007/BF00291495.

Abstract

Two infants with trisomy involving chromosome 9 are described. One had complete trisomy 9 and the other karyotype 47,XX,+der(9),t(7;9) (p22;q32)mat. A trisomy 9 syndrome is delineated, consisting of features of the trisomy 9p syndrome and various other malformations. These include abnormalities of the cardiovascular and urogenital systems, cranial suture anomalies, dislocation of the hips and knees and early death. A possible relationship of some of these findings to regions of 9q involved in cases of partial trisomy 9 is suggested.

摘要

本文描述了两名患有9号染色体三体的婴儿。一名患有完整的9号染色体三体,另一名的核型为47,XX,+der(9),t(7;9) (p22;q32)mat。本文明确了一种9号染色体三体综合征,其特征包括9号染色体短臂三体综合征的特征以及各种其他畸形。这些畸形包括心血管和泌尿生殖系统异常、颅缝异常、髋关节和膝关节脱位以及早夭。文中还提出了其中一些发现与9号染色体部分三体病例中涉及的9号染色体长臂区域之间可能存在的关系。

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