Association of Treacher Collins syndrome and translocation 6p21.31/16p13.11

Exclusion of the locus from these candidate regions

M. J. Dixon*, E. Haan, E. Baker, D. David, N. McKenzie, R. Williamson, J. Mulley, M. Farrall, D. Callen

*Corresponding author for this work

Research output: Contribution to journalArticle

19 Citations (Scopus)

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 p45.1DPbeta003/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.

Original languageEnglish
Pages (from-to)274-280
Number of pages7
JournalAmerican Journal of Human Genetics
Volume48
Issue number2
Publication statusPublished - Feb 1991
Externally publishedYes

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