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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?
- 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