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  • Title: Association of autosomal dominant cleft lip and palate and translocation 6p23;9q22.3.
    Author: Donnai D, Heather LJ, Sinclair P, Thakker Y, Scambler PJ, Dixon MJ.
    Journal: Clin Dysmorphol; 1992 Apr; 1(2):89-97. PubMed ID: 1345518.
    Abstract:
    Orofacial clefting (OFC) is genetically complex in that no single gene defect is responsible for all forms. We have identified a family who exhibit autosomal dominant orofacial clefting together with some features of ectodermal dysplasia. In this family there is concordance between these features and an apparently balanced translocation t(6;9)(p23;q22.3) which raises the possibility that a locus for one form of orofacial clefting may be located at one of the translocation breakpoints. Fluorescent in situ hybridization has shown that a candidate gene for OFC, which maps to distal 6p, is located on the derived chromosome 9 in affected individuals from this family. Further characterization of the translocation breakpoints and of their relationship with the candidate gene will determine whether a gene important for normal facial and/or ectodermal development is disrupted in this family.
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