title: Stocco dos Santos X-linked mental retardation syndrome: clinical elucidation and localization to Xp11.3-Xq21.3.
abstract: Mental retardation (MR) affects an estimated 2-3% of the population. A considerable fraction of mental retardation is due to X-linked genes. Of these genes, about 136 are responsible for syndromic X-linked MR (XLMR). One such XLMR syndrome, Stocco dos Santos, was first described in 1991. This family was re-visited, which allowed further delineation of the clinical phenotype. Additionally, linkage analysis was conducted, which resulted in the localization of this XLMR syndrome to the pericentric region, Xp11.3 to Xq21.1, with a maximum LOD score of 3.14 at loci AR and DXS983.
authors.affiliation: Laboratorio de Genetica, Instituto Butantan, Sao Paulo, Brazil. ritastocco@yahoo.com
authors.forename: Rita C
authors.initials: RC
authors.lastname: Stocco dos Santos
authors.forename: Nelson H C
authors.initials: NH
authors.lastname: Castro
authors.forename: A
authors.initials: A
authors.lastname: Lillia Holmes
authors.forename: Willy
authors.initials: W
authors.lastname: Beçak
authors.forename: Darci
authors.initials: D
authors.lastname: Tackels-Horne
authors.forename: Charles J
authors.initials: CJ
authors.lastname: Lindsey
authors.forename: Herbert A
authors.initials: HA
authors.lastname: Lubs
authors.forename: Roger E
authors.initials: RE
authors.lastname: Stevenson
authors.forename: Charles E
authors.initials: CE
authors.lastname: Schwartz
mesh_terms: D002874:Chromosome Mapping; D041321:Chromosomes, Human, X; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D008297:Male; D038901:X-Linked Intellectual Disability / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome
chemical_list: D005819:Genetic Markers