一名女孩的核型为46,XX,-12,+der(12),rcp(3;12)(p25.1;p13.31)父源。通过排除定位法可能将甘油醛-3-磷酸脱氢酶基因座亚区域定位于12p13.1----p13.31。
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.
作者信息
Rivas F, Vaca G, Zúñiga G, González R M, Ruiz C, Rivera H, Moller M, Cantu J M
出版信息
Ann Genet. 1985;28(3):189-92.
PMID:3879156
Abstract
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.
摘要
本文描述了一名患有3p部分三体和12p末端缺失的女婴，其病因是父亲发生了(3;12)(p25.1;p13.31)易位。先证者中正常的甘油醛-3-磷酸（GAPD）活性暂时排除了GAPD基因座位于缺失片段内。因此，该基因座所在区域缩小至12p13.1----p13.31。
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