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

  title={Stocco dos Santos X‐linked mental retardation syndrome: Clinical elucidation and localization to Xp11.3–Xq21.3},
  author={R. C. Stocco dos Santos and N. Castro and A. Lillia Holmes and W. Beçak and D. Tackels-Horne and C. J. Lindsey and H. Lubs and R. Stevenson and C. Schwartz},
  journal={American Journal of Medical Genetics Part A},
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… Expand
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