46,X,i(Xq)/45,X嵌合体伴性腺发育不全并与21号染色体短臂缺失相关
46,X,i(Xq)/45,X mosaicism with gonadal dysgenesis associated with 21p-.
作者信息
Gaál M, Tóth A, Bösze P, László J
出版信息
Clin Genet. 1984 Jan;25(1):79-83. doi: 10.1111/j.1399-0004.1984.tb00467.x.
This paper presents a female patient with a clinical picture of gonadal dysgenesis and the chromosome constitution with a monocentric isochromosome of one X and a marker chromosome 21 with deleted short arm. The proband's father and other members of the family suffered from Huntington's chorea and each of them possessed the deleted chromosome 21. Our case supports the idea that minor chromosome aberrations may increase the inclination for the development of unbalanced recombinant offsprings.
本文介绍了一名具有性腺发育不全临床表现的女性患者，其染色体构成是一条X染色体的单中心等臂染色体和一条短臂缺失的21号标记染色体。先证者的父亲和家族中的其他成员患有亨廷顿舞蹈症，他们每个人都拥有这条缺失的21号染色体。我们的病例支持这样一种观点，即微小的染色体畸变可能会增加产生不平衡重组后代的倾向。
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