title: A de nevo complex t(7;13;8) translocation with a deletion in the TRPS gene region.
abstract: Molecular cytogenetic analyses have resolved the pathogenetic aberration of an 8-year-old girl with tricho-rhino-phalangeal syndrome type I (TRPS I), normal intelligence, and a karyotype originally described as 46,XX,t(8;13)(q24;q21). R- and Q-banding and high resolution R-banding analyses have also disclosed a seemingly mosaic abnormality of the distal short arm of chromosome 7 but have not fully characterized this abnormality. Combined primed in situ labelling and chromosome painting, and three-colour chromosome painting have revealed a complex, apparently balanced translocation t(7;13;8). Fluorescence in situ hybridization with yeast artificial chromosome and cosmid clones from 8q24.1 has shown an interstitial deletion of at least 3 Mb covering most of the TRPS I critical region.
authors.affiliation: Institute of Human Genetics, University of Aarhus, Denmark. carsten@humgen.aau.dk
authors.forename: C A
authors.initials: CA
authors.lastname: Brandt
authors.forename: H J
authors.initials: HJ
authors.lastname: Lüdecke
authors.forename: J
authors.initials: J
authors.lastname: Hindkjaer
authors.forename: H
authors.initials: H
authors.lastname: Strømkjaer
authors.forename: D
authors.initials: D
authors.lastname: Pinkel
authors.forename: T
authors.initials: T
authors.lastname: Herlin
authors.forename: L
authors.initials: L
authors.lastname: Bolund
authors.forename: U
authors.initials: U
authors.lastname: Friedrich
mesh_terms: D002648:Child; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13; D002897:Chromosomes, Human, Pair 7; D002898:Chromosomes, Human, Pair 8; D005260:Female; D006801:Humans; D010009:Osteochondrodysplasias / Q000235:genetics*; D013577:Syndrome; D014178:Translocation, Genetic