一名女性的X连锁无汗性外胚层发育不良与新发t(X;1)
X-linked anhidrotic ectodermal dysplasia and de novo t(X;1) in a female.
作者信息
Limon J, Filipiuk J, Nedoszytko B, Mrózek K, Castrén M, Larramendy M, Roszkiewicz J
机构信息
Department of Biology and Genetics, Medical Academy, Gdańsk, Poland.
出版信息
Hum Genet. 1991 Jul;87(3):338-40. doi: 10.1007/BF00200916.
PMID:1864610
Abstract
A de novo translocation (X;1)(q13.1;p36.33) was found in a 2-year-old girl with typical clinical features of X-linked anhidrotic ectodermal dysplasia (EDA). The breakpoint at Xq13.1 is approximately the same as has been described in 2 other EDA females with X;autosome translocations.
摘要
在一名患有典型X连锁无汗性外胚层发育不良（EDA）临床特征的2岁女童中发现了一种新发易位（X；1）（q13.1；p36.33）。Xq13.1处的断点与另外2名患有X；常染色体易位的EDA女性中所描述的大致相同。
Zotero 插件