title: Mapping of Simpson-Golabi-Behmel syndrome to Xq25-q27.
abstract: Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked gigantism syndrome characterized primarily by a coarse facies and somatic overgrowth which we have observed to be associated with an increased risk for embryonal tumors. Genetic linkage analysis for two SGBS kindreds in which X linked dominant inheritance was observed has been conducted for the X chromosome. The closest linkage to SGBS was observed for the Xq26 locus HPRT (Z max = 7.45, theta max = 0.00). SGBS-Xq marker recombinations map the disease locus to the DXS425-DXS1123 interval on Xq25-q27. This maps the disease locus to a region known to contain a previously characterized chromosomal translocation breakpoint found in a young girl with somatic overgrowth. This observation may have implications for the cloning of the SGBS gene.
authors.affiliation: Department of Biochemistry, University of Ottawa, Ontario, Canada.
authors.forename: J Y
authors.initials: JY
authors.lastname: Xuan
authors.forename: A
authors.initials: A
authors.lastname: Besner
authors.forename: M
authors.initials: M
authors.lastname: Ireland
authors.forename: R M
authors.initials: RM
authors.lastname: Hughes-Benzie
authors.forename: A E
authors.initials: AE
authors.lastname: MacKenzie
mesh_terms: D001483:Base Sequence; D015139:Blotting, Southern; D002874:Chromosome Mapping; D004247:DNA / Q000097:blood / Q000235:genetics; D017931:DNA Primers; D005260:Female; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D005819:Genetic Markers; D005838:Genotype; D005877:Gigantism / Q000235:genetics*; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011995:Recombination, Genetic; D013577:Syndrome; D014178:Translocation, Genetic; D014960:X Chromosome
chemical_list: D017931:DNA Primers; D005819:Genetic Markers; D004247:DNA; D007041:Hypoxanthine Phosphoribosyltransferase