46,XX,-12,+der(12),rcp(3;12)(p25.1;p13.31)pat karyotype in a girl. Probable subregional assignment of glyceraldehyde-3-phosphate dehydrogenase locus to 12p13.1----p13.31 by exclusion mapping.
46,XX,-12,+der(12),rcp(3;12)(p25.1;p13.31)pat karyotype in a girl. Probable subregional assignment of glyceraldehyde-3-phosphate dehydrogenase locus to 12p13.1----p13.31 by exclusion mapping.
复制标题
46,XX,-12, der(12),rcp(3;12)(p25.1;p13.31)pat 核型在女孩中。
DOI：
--
复制
发表时间：
1985
期刊：
影响因子：
--
通讯作者：
J. Cantú
中科院分区：
文献类型：
--
作者：
F. Rivas;G. Vaca;G. Zúñiga;R. González;C. Ruiz;H. Rivera;M. Møller;J. Cantú
一名女婴部分三体3 p和末端缺失12 p，由于父亲（3;12）（p25.1;p13.31）易位的描述。先证者中正常的甘油醛-3-磷酸（GAPD）活性暂时将GAPD位点从缺失片段中排除。因此，该基因座的区域减少到12p13.1-p13.31。
A female infant with partial trisomy 3p and a terminal deletion 12p, due to a paternal (3;12)(p25.1;p13.31) translocation is described. Normal glyceraldehyde-3-phosphate (GAPD) activity in the proposita tentatively excludes GAPD locus from the deleted segment. Therefore, the region for this locus is reduced to 12p13.1----p13.31.