46,XX/46,XX,r(15)嵌合体：一例报告
46,XX/46,XX,r(15) mosaiciam: report of a case.
作者信息
Pfeiffer R A, Dhadial R, Lenz W
出版信息
J Med Genet. 1977 Feb;14(1):63-5. doi: 10.1136/jmg.14.1.63.
Abstract
Mosaicism of cells with a normal karyotype or with a ring chromosome no. 15 was found in a girl with hypoplasia of the thumbs, club feet, mental retardation, and short stature, which seems to be a feature of this chromosomal aberration.
摘要
在一名患有拇指发育不全、马蹄内翻足、智力发育迟缓及身材矮小的女孩体内，发现了具有正常核型或15号环状染色体的细胞嵌合体，这似乎是这种染色体畸变的一个特征。
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