DIRECT DUPLICATION 2P14-]2P23

被引：32

作者：

YUNIS, E

GONZALEZ, J

ZUNIGA, R

TORRESDECABALLERO, OM

MONDRAGON, A

机构：

[1] Sección de Genética Humana, Departamento de Morfologia, Facultad de Medicina, Universidad Nacional de Colombia, Bogotá

来源：

HUMAN GENETICS | 1979年 / 48卷 / 02期

关键词：

D O I：

10.1007/BF00286910

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A malformed male newborn was first diagnosed as having Smith-Lemli-Opitz syndrome. Extensive cytogenetic studies, including Q, G, C, R and T banding and BudR treatment, were applied, finally leading the authors to conclude that the patient had a partial 2p trisomy caused by direct duplication 2p14→2p23. This was a de novo chromosome abnormality, as both parents had normal karyotypes. © 1979 Springer-Verlag.

引用

页码：241 / 244

页数：4