This article is dedicated to the memory of Ethan Francis Schwartz, 1996–1998.
X-linked intellectual disability: Unique vulnerability of the male genome†
Article first published online: 15 DEC 2009
Copyright © 2009 Wiley-Liss, Inc.
Developmental Disabilities Research Reviews
Special Issue: Cognitive Profiles in Sex Chromosome Disorders
Volume 15, Issue 4, pages 361–368, 2009
How to Cite
Stevenson, R. E. and Schwartz, C. E. (2009), X-linked intellectual disability: Unique vulnerability of the male genome. Dev Disabil Res Revs, 15: 361–368. doi: 10.1002/ddrr.81
- Issue published online: 15 DEC 2009
- Article first published online: 15 DEC 2009
- Manuscript Accepted: 12 SEP 2009
- Manuscript Received: 17 JUL 2009
- National Institute of Child Health and Human Development. Grant Number: HD26202
- South Carolina Department of Disabilities and Special Needs. Grant Number: SG#2009-45
- The Wellcome Trust
- X-linked intellectual disability (XLID);
- XLID syndromes;
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.