Brachydactyly in a child with duplication-deficiency subsequent to t(15;20)(q25.2;p12.2)mat. Candidate regions on one or both chromosomes?

被引：0

作者：

Pfeiffer, RA

Kandler, C

Sieber, E

Rauch, A

Trautmann, U

机构：

[1] UNIV ERLANGEN NURNBERG,KLIN KINDER & JUGENDLICHE,D-91054 ERLANGEN,GERMANY

[2] UNIV ERLANGEN NURNBERG,INST PATHOL,D-91054 ERLANGEN,GERMANY

来源：

CLINICAL GENETICS | 1997年 / 51卷 / 05期

关键词：

brachydactyly; brachymesophalangy A2; del 15q phenotype; reciprocal translocation;

D O I：

暂无

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report a child with a duplication-deficiency subsequent to t(15;20)(q25.2;p12.2), transmitted in at least 5 generations, who showed features of 15q- syndrome. We speculate that brachydactyly - most likely because of brachymesophalangism - is a feature of the phenotype of this chromosomal aberration and points to candidate gene(s) in this region. A similar brachydactyly was, however, reported with dup(20pl-pter).

引用

页码：357 / 360

页数：4