与先天性巨结肠相关的13号染色体长臂远端间质缺失。
Interstitial deletion of distal 13q associated with Hirschsprung's disease.
作者信息
Lamont M A, Fitchett M, Dennis N R
机构信息
Department of Child Health, Southampton General Hospital.
出版信息
J Med Genet. 1989 Feb;26(2):100-4. doi: 10.1136/jmg.26.2.100.
Abstract
Three cases of interstitial deletion of chromosome 13 involving the common segment 13q22.1----q32.1 are reported. In addition to the recognised clinical features of this deletion, two had Hirschsprung's disease.
摘要
报告了3例13号染色体间质缺失病例，缺失的共同片段为13q22.1----q32.1。除了这种缺失所公认的临床特征外，其中2例患有先天性巨结肠。
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