title: Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity.
abstract: A new syndromic form of X-linked mental retardation associated to obesity, MRXS7, has been localised to Xp11.3-Xq23 in a large Pakistani family. The ten affected males show clinical manifestations of mental retardation, obesity and hypogonadism. The family was genotyped by a set of microsatellite markers spaced at approximately 10 cM intervals on the X chromosome. Linkage to five adjacent microsatellite markers, mapping in the pericentromeric area, was established and a maximum two-point lod score of 3.86 was reached at zero recombination with marker DXS1106. Reduced recombination events around the centromere prevented precise mapping of the gene.
authors.affiliation: Telethon Institute of Genetics and Medicine, Milan, Italy.
authors.forename: W
authors.initials: W
authors.lastname: Ahmad
authors.forename: M
authors.initials: M
authors.lastname: De Fusco
authors.forename: M
authors.initials: M
authors.lastname: Faiyaz ul Haque
authors.forename: P
authors.initials: P
authors.lastname: Aridon
authors.forename: T
authors.initials: T
authors.lastname: Sarno
authors.forename: M
authors.initials: M
authors.lastname: Sohail
authors.forename: S
authors.initials: S
authors.lastname: ul Haque
authors.forename: M
authors.initials: M
authors.lastname: Ahmad
authors.forename: A
authors.initials: A
authors.lastname: Ballabio
authors.forename: B
authors.initials: B
authors.lastname: Franco
authors.forename: G
authors.initials: G
authors.lastname: Casari
mesh_terms: D000293:Adolescent; D000328:Adult; D002874:Chromosome Mapping; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D009765:Obesity / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome; D014960:X Chromosome / Q000235:genetics*