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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?
Author(s) -
Pfeiffer R. A.,
Kändler Chr.,
Sieber E.,
Rauch A.,
Trautmann U.
Publication year - 1997
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1997.tb02489.x
Subject(s) - brachydactyly , gene duplication , dup , genetics , phenotype , biology , gene , short stature , endocrinology
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).