dup公司
部分三体性
核型
基因复制
三体
长臂
脊柱侧凸
遗传学
染色体分析
皮纹学
先天性脊柱侧凸
表型
医学
儿科
生物
作者
K Chandler,Constance T.R.M. Schrander-Stumpel,John J.M. Engelen,PMVM Theunissen,J. P. Fryns
出处
期刊:PubMed
[National Institutes of Health]
日期:1997-01-01
卷期号:8 (2): 91-7
被引量:18
摘要
We report a girl with severe developmental delay, scoliosis and mild dysmorphism. She was found to have a partial duplication of the long arm of chromosome 15. Precise cytogenetic diagnosis was possible after additional in situ hybridisation. A Karyotype of 46,XX,dup (15) (pter-->q26.3::q24-->qter) was concluded. We compare her data with the literature. No specific phenotype was found.
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