PHYSICAL MAPPING OF THE CHROMOSOME-7 BREAKPOINT REGION IN AN SLOS PATIENT WITH T(7-20)(Q32.1-Q13.2)

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder c haracterized by multiple congenital anomalies and mental retardation. SLOS has an associated defect in cholesterol biosynthesis, but the mol ecular genetic basis of this condition has not yet been elucidated, Pr eviously our group reported a patient with a de novo balanced transloc ation [t(7;20) (q32.1;q13.2)] fitting the clinical and biochemical pro file of SLOS, Employing fluorescence in situ hybridization (FISH), a 1 .8 Mb chromosome 7-specific yeast artificial chromosome (YAC) was iden tified which spanned the translocation breakpoint in the reported pati ent, The following is an update of the on-going pursuit to physically and genetically map the region further, as well as the establishment o f candidate genes in the 7q32.1 breakpoint region. (C) 1997 Wiley-Liss , Inc.