title: Association of Treacher Collins syndrome and translocation 6p21.31/16p13.11: exclusion of the locus from these candidate regions.
abstract: Treacher Collins syndrome (TCS) is an autosomal dominant defect of craniofacial development which has not been chromosomally localized. We have identified a mother and two children who have TCS and also a balanced translocation t(6;16)(p21.31;p13.11), which suggested the possibility that the TCS locus might be located at one of the translocation breakpoints. These were defined by in-situ hybridization as 6p21.31 (by using loci in the HLA complex defined by the probes p45.1DP beta 003/HLA-DPB2 and pRS5.10/HLA class I chain) and 16p13.11 (by using probes pACHF1.3.2/D16S8 and VK45/D16S131). Pairwise and multipoint linkage analysis using localized chromosome 6 probes and chromosome 16 probes in 12 unrelated TCS families with multiple affected siblings excluded the TCS locus from proximity to both translocation breakpoints. These data were confirmed when a third affected child, who did not exhibit the translocation, was born to the mother.
authors.affiliation: Department of Cell and Structural Biology, University of Manchester, England.
authors.forename: M J
authors.initials: MJ
authors.lastname: Dixon
authors.forename: E
authors.initials: E
authors.lastname: Haan
authors.forename: E
authors.initials: E
authors.lastname: Baker
authors.forename: D
authors.initials: D
authors.lastname: David
authors.forename: N
authors.initials: N
authors.lastname: McKenzie
authors.forename: R
authors.initials: R
authors.lastname: Williamson
authors.forename: J
authors.initials: J
authors.lastname: Mulley
authors.forename: M
authors.initials: M
authors.lastname: Farrall
authors.forename: D
authors.initials: D
authors.lastname: Callen
mesh_terms: D002871:Chromosome Banding; D002885:Chromosomes, Human, Pair 16; D002896:Chromosomes, Human, Pair 6; D004247:DNA / Q000235:genetics; D008040:Genetic Linkage; D006801:Humans; D007621:Karyotyping; D008126:Lod Score; D008342:Mandibulofacial Dysostosis / Q000235:genetics*; D009693:Nucleic Acid Hybridization; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D014178:Translocation, Genetic
chemical_list: D004247:DNA