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Stocco dos Santos X‐linked mental retardation syndrome: Clinical elucidation and localization to Xp11.3–Xq21.3
Author(s) -
Stocco dos Santos Rita C.,
Castro Nelson H.C.,
Lillia Holmes A.,
Beçak Willy,
TackelsHorne Darci,
Lindsey Charles J.,
Lubs Herbert A.,
Stevenson Roger E.,
Schwartz Charles E.
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20021
Subject(s) - x chromosome , genetic linkage , linkage (software) , phenotype , population , genetics , gene , biology , medicine , environmental health
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. © 2003 Wiley‐Liss, Inc.