一名患有色素失禁症（IP）的女孩中出现的(X;9)(p11;q34)易位：对将IP基因座定位到Xp11区域有何影响？
Translocation (X;9)(p11;q34) in a girl with incontinentia pigmenti (IP): implications for the regional assignment of the IP locus to Xp11?
作者信息
Gilgenkrantz S, Tridon P, Pinel-Briquel N, Beurey J, Weber M
出版信息
Ann Genet. 1985;28(2):90-2.
PMID:3876069
Abstract
A t(X;9)(p11;q34) is reported in a girl with incontinentia pigmenti (IP). The X breakpoint is at p11.21. Although no similar case has been reported, this breakpoint may be significant insofar IP is considered an X-linked dominant mutation and could be of help in a specific X DNA probes study.
摘要
在一名患有色素失禁症（IP）的女孩中发现了t(X;9)(p11;q34)。X染色体的断点位于p11.21。尽管尚未报道过类似病例，但鉴于IP被认为是一种X连锁显性突变，该断点可能具有重要意义，并且可能有助于特定的X DNA探针研究。
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