两代人中的部分10号染色体短臂三体性
Partial trisomy 10p in two generations.
作者信息
Lurie I W, Lazjuk G I, Gurevich D B, Kravtzoa G I, Nedzved M K, Shved I A
出版信息
Hum Genet. 1978 Mar 17;41(2):235-41. doi: 10.1007/BF00273107.
Two cases of partial 10p trisomy due to a t(10;20)(p12;p12) in two generations of a family are presented. Analysis of 20 known cases of such aberrations confirmed the opinion of Schleiermacher et al. (1974) that partial trisomy 10p is a distinct clinically recognizable entity. The most important diagnostic features of this syndrome are dolichocephaly, prominent forehead, wide open sutures and fontanelles, broad root of the nose, cleft lip and palate, clubfoot, and cystic changes in kidneys.
本文报告了一个家族两代人中因t(10;20)(p12;p12)导致的两例部分10p三体病例。对20例已知此类畸变病例的分析证实了施莱尔马赫等人（1974年）的观点，即部分10p三体是一种临床上可识别的独特实体。该综合征最重要的诊断特征是长头畸形、前额突出、缝线和囟门大开、鼻根宽阔、唇腭裂、马蹄内翻足以及肾脏的囊性改变。
Zotero 插件