期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 118A, 期 3, 页码 255-259出版社
WILEY
DOI: 10.1002/ajmg.a.20021
关键词
XLMR; Xp11.3-q21.3; Stocco dos Santos; linkage
资金
- NICHD NIH HHS [HD26202] Funding Source: Medline
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.
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