由于母亲臂间倒位导致的10号染色体短臂三体综合征。
Trisomy 10p syndrome owing to maternal pericentric inversion.
作者信息
Ohba K, Ohdo S, Sonoda T
机构信息
Department of Paediatrics, Miyazaki Medical College, Japan.
出版信息
J Med Genet. 1990 Apr;27(4):264-6. doi: 10.1136/jmg.27.4.264.
Abstract
A female infant with karyotype 46,XX,rec(10),dup p inv(10)(p11.2q25.2)mat is presented. She had both duplication of 10p and deletion of distal 10q, but only had the constellation of specific features characteristic of duplication of 10p.
摘要
本文报告了一名核型为46,XX,rec(10),dup p inv(10)(p11.2q25.2)mat的女婴。她既有10p重复，又有10q远端缺失，但仅具有10p重复所特有的特定特征组合。
Zotero 插件