RETROSPECTIVE STUDY OF THE PARENTAL ORIGIN OF THE EXTRA CHROMOSOME IN TRISOMY-18 (EDWARDS-SYNDROME)

被引：30

作者：

NOTHEN, MM

EGGERMANN, T

ERDMANN, J

EIBEN, B

HOFMANN, D

PROPPING, P

SCHWANITZ, G

机构：

[1] EVANGEL KRANKENHAUS,OBERHAUSEN,GERMANY

[2] UNIV BONN,INST KINDERPATHOL,W-5300 BONN,GERMANY

来源：

HUMAN GENETICS | 1993年 / 92卷 / 04期

关键词：

D O I：

10.1007/BF01247332

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The parental origin of the extra chromosome in trisomy 18 was traced in 30 informative families using highly polymorphic (CA) repeats mapped on the long arm of chromosome 18. Proband DNA was recovered from slides of chromosome preparations in 28 cases and from paraffin-embedded tissues in two cases. The extra chromosome was found to be of maternal origin in 26 cases (86.7%), and paternal origin in 4 cases (13.3%).

引用

页码：347 / 349

页数：3

共 16 条

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