Stocco dos Santos X-linked mental retardation syndrome: clinical elucidation and localization to Xp11.3-Xq21.3.
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.
Stocco dos Santos
Rita C
RC
Laboratorio de Genetica, Instituto Butantan, Sao Paulo, Brazil. ritastocco@yahoo.com
Castro
Nelson H C
NH
Lillia Holmes
A
A
Beçak
Willy
W
Tackels-Horne
Darci
D
Lindsey
Charles J
CJ
Lubs
Herbert A
HA
Stevenson
Roger E
RE
Schwartz
Charles E
CE
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
D005819:Genetic Markers