Am J Med Genet A. 2003 Apr 30;118A(3):255-9.

Stocco dos Santos X-linked mental retardation syndrome: clinical elucidation and localization to Xp11.3-Xq21.3.

Stocco dos Santos RC, Castro NH, Lillia Holmes A, Beçak W, Tackels-Horne D, Lindsey CJ, Lubs HA, Stevenson RE, Schwartz CE.

Source

Laboratorio de Genetica, Instituto Butantan, Sao Paulo, Brazil. ritastocco@yahoo.com

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.

PMID:: 12673656; [PubMed - indexed for MEDLINE]

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HD26202/HD/NICHD NIH HHS/United States

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