title: Brachydactyly in a child with duplication-deficiency subsequent to t(15;20)(q25.2;p12.2)mat. Candidate regions on one or both chromosomes?
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).
authors.affiliation: Institut für Humangenetik, Erlangen, Germany.
authors.forename: R A
authors.initials: RA
authors.lastname: Pfeiffer
authors.forename: C
authors.initials: C
authors.lastname: Kändler
authors.forename: E
authors.initials: E
authors.lastname: Sieber
authors.forename: A
authors.initials: A
authors.lastname: Rauch
authors.forename: U
authors.initials: U
authors.lastname: Trautmann
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002884:Chromosomes, Human, Pair 15; D002890:Chromosomes, Human, Pair 20; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D011859:Radiography; D014178:Translocation, Genetic