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Keywords:

  • X-linked intellectual disability (XLID);
  • XLID syndromes;
  • X-inactivation

Abstract

X-linked intellectual disability (XLID) accounts for ∼16% of males with intellectual disability (ID). This is, in part, related to the fact that males have a single X chromosome. Progress in the clinical and molecular characterization of XLID has outpaced progress in the delineation of ID due to genes on the other 22 chromosomes. Almost half of the estimated 200 XLID genes have been identified and another 20% have been regionally mapped. These advances have had immediate benefits for families, allowing for carrier testing, genetic counseling, prenatal diagnosis, and preimplantation genetic diagnosis. Additionally, the combination of clinical delineation with gene identification and the development of gene panels for screening nonsyndromal XLID has been able to limit unproductive laboratory testing. Most importantly for the patients, some of the gene discoveries have pointed to potential strategies for treatment. © 2009 Wiley-Liss, Inc. Dev Disabil Res Rev 2009;15:361–368.