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Updated: Aug 23, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Mapping of three translocation breakpoints associated with orofacial clefting within 6p24 and identification of new
S J Davies1, C Wise, B Venkatesh
1The Wellcome Trust Centre for Human Genetics, Oxford, UK. s.davies@ucl.ac.uk
Abstract:
Orofacial clefting (OFC) is a common congenital malformation. Here we report the refinement of three translocation breakpoints of patients exhibiting OFC within the 6p24 region, and the isolation and characterisation of novel genes, one of which is directly disrupted by the translocation breakpoint of a patient. The gene has been characterized and orthologues identified in bovine, murine and pufferfish.
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