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

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

Author Santos, RCS dos Google Scholar
Castro, NHC Google Scholar
Holmes, A. L. Google Scholar
Becak, W. Google Scholar
Tackels-Horne, D. Google Scholar
Lindsey, C. J. Google Scholar
Lubs, H. A. Google Scholar
Stevenson, R. E. Google Scholar
Schwartz, C. E. Google Scholar
Institution Inst Butantan
Universidade Federal de São Paulo (UNIFESP)
Univ Miami
Univ Taubate
Greenwood Genet Ctr
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. (C) 2003 Wiley-Liss, Inc.
Keywords XLMR
Xp11.3-q21.3
Stocco dos Santos
linkage
Language English
Date 2003-04-30
Published in American Journal of Medical Genetics Part A. Hoboken: Wiley-Blackwell, v. 118A, n. 3, p. 255-259, 2003.
ISSN 1552-4825 (Sherpa/Romeo, impact factor)
Publisher Wiley-Blackwell
Extent 255-259
Origin http://dx.doi.org/10.1002/ajmg.a.20021
Access rights Closed access
Type Article
Web of Science ID WOS:000182401500009
URI http://repositorio.unifesp.br/handle/11600/27213

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