title: Linkage analysis in a family with the Opitz GBBB syndrome refines the location of the gene in Xp22 to a 4 cM region.
abstract: The Opitz GBBB syndrome (OS) is characterized in part by widely spaced inner ocular canthi and hypospadias. Recently, linkage analysis showed that the gene for the X-linked form to be located in an 18 cM region spanning Xp22. We have now conducted linkage analysis in a family previously published as having the BBB syndrome and found tight linkage to DXS7104 (Z = 3.3, theta = 0.0). Our data narrows the candidate region to 4 cM and should facilitate the identification and characterization of one of the genes involved in midline development.
authors.affiliation: Center for Molecular Studies, J.C. Self Research Institute, Greenwood Genetic Center, S.C. 29646, USA.
authors.forename: M
authors.initials: M
authors.lastname: May
authors.forename: S
authors.initials: S
authors.lastname: Huston
authors.forename: R S
authors.initials: RS
authors.lastname: Wilroy
authors.forename: C
authors.initials: C
authors.lastname: Schwartz
mesh_terms: D004247:DNA / Q000032:analysis; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D019082:Smith-Lemli-Opitz Syndrome / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics*
chemical_list: D004247:DNA