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

Authors :
Pfeiffer RA
Kändler C
Sieber E
Rauch A
Trautmann U
Source :
Clinical genetics [Clin Genet] 1997 May; Vol. 51 (5), pp. 357-60.
Publication Year :
1997

Abstract

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(20p1-pter).

Details

Language :
English
ISSN :
0009-9163
Volume :
51
Issue :
5
Database :
MEDLINE
Journal :
Clinical genetics
Publication Type :
Academic Journal
Accession number :
9212188
Full Text :
https://doi.org/10.1111/j.1399-0004.1997.tb02489.x