一名女性的X连锁低汗性外胚层发育不良及t(X;12)
X-linked hypohidrotic ectodermal dysplasia and t(X;12) in a female.
作者信息
Turleau C, Niaudet P, Cabanis M O, Plessis G, Cau D, de Grouchy J
机构信息
U.173 INSERM-UAC.119 CNRS, Hôpital Necker-Enfants-Malades, France.
出版信息
Clin Genet. 1989 Jun;35(6):462-6. doi: 10.1111/j.1399-0004.1989.tb02973.x.
Abstract
A female patient with features of hypohidrotic ectodermal dysplasia (HED) was found to be a carrier of a de novo t(X;12) with a breakpoint in Xq13.1. This is the second instance of an X/autosome translocation, with apparently the same X breakpoint, reported in HED.
摘要
一名具有少汗型外胚层发育不良（HED）特征的女性患者被发现是新发t（X；12）的携带者，其断点位于Xq13.1。这是在HED中报道的第二例X/常染色体易位，其X断点显然相同。
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