Molecular investigation of the parental origin of a de novo unbalanced translocation 13/18

被引：6
|
作者：
Eggermann, T
Engels, H
HeidrichKaul, C
Moderau, I
Schwanitz, G
机构：
[1] UNIV BONN,INST HUMANGENET,D-5300 BONN,GERMANY
[2] STADT KRANKENANATALTEN KREFELD,KINDERKLIN,KREFELD,GERMANY
来源：
HUMAN GENETICS | 1997年 / 99卷 / 04期
关键词：
D O I：
10.1007/s004390050399
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We report a patient with a de novo translocation 13/18, identified by high-resolution banding. The breakpoints were ascertained by fluorescence in situ hybridisation with whole chromosome 13 and 18 paints. Short tandem repeat typing demonstrated the aberration to be of combined maternal/paternal origin and thereby confirmed its de novo and postzygotic formation. Thus, a gonadal mosaic in one of the parents resulting in a higher recurrence risk could be excluded.
引用
收藏
页码：521 / 522
页数：2
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