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 KANDLER C SIEBER E RAUCH A TRAUTMANN U
Citation
Ra. Pfeiffer et al., BRACHYDACTYLY IN A CHILD WITH DUPLICATION-DEFICIENCY SUBSEQUENT TO T(15-20)(Q25.2-P12.2)MAT - CANDIDATE REGIONS ON ONE OR BOTH CHROMOSOMES, Clinical genetics, 51(5), 1997, pp. 357-360
Citations number
26
Categorie Soggetti
Genetics & Heredity
Journal title
Clinical genetics → ACNP
ISSN journal
00099163
Volume
51
Issue
5
Year of publication
1997
Pages
357 - 360
Database
ISI
SICI code
0009-9163(1997)51:5<357:BIACWD>2.0.ZU;2-#
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 featu res of 15q- syndrome. We speculate that brachydactyly - most likely be cause 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).