一名性腺发育不全患者X染色体的结构畸变：一种核型与表型相关性的研究方法。
Structural aberration of the X chromosome in a patient with gonadal dysgenesis: an approach to karyotype-phenotype correlation.
作者信息
Varella-Garcia M, Tajara E H, Gagliardi A R
出版信息
J Med Genet. 1981 Jun;18(3):228-31. doi: 10.1136/jmg.18.3.228.
Abstract
An 18-year-old female with some stigmata of pure dysgenesis had a chromosome constitution of 46,X,dir dup(X) (pter leads to q27: :q21 leads to qter). The abnormal chromosome was always late replicating. The clinical and cytogenetic picture is compared with that of patients with X;X translocation and some problems of karyotype-phenotype correlation are discussed.
摘要
一名患有单纯发育不全某些体征的18岁女性，其染色体组成为46,X,dir dup(X)(pter→q27::q21→qter)。异常染色体总是晚复制。将该临床和细胞遗传学表现与X;X易位患者的表现进行了比较，并讨论了核型-表型相关性的一些问题。
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