How to cite this article: Visootsak J, Rosner B, Dykens E, Tartaglia N, Graham JM Jr. 2007. Behavioral phenotype of sex chromosome aneuploidies: 48,XXYY, 48,XXXY, and 49,XXXXY. Am J Med Genet Part A 143A:1198–1203.
Behavioral phenotype of sex chromosome aneuploidies: 48,XXYY, 48,XXXY, and 49,XXXXY†
Article first published online: 11 MAY 2007
Copyright © 2007 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 143A, Issue 11, pages 1198–1203, 1 June 2007
How to Cite
Visootsak, J., Rosner, B., Dykens, E., Tartaglia, N. and Graham, J. M. (2007), Behavioral phenotype of sex chromosome aneuploidies: 48,XXYY, 48,XXXY, and 49,XXXXY. Am. J. Med. Genet., 143A: 1198–1203. doi: 10.1002/ajmg.a.31746
- Issue published online: 21 MAY 2007
- Article first published online: 11 MAY 2007
- Manuscript Accepted: 5 FEB 2007
- Manuscript Received: 2 JUN 2005
- SHARE's Child Disability Center, UCLA Intercampus NIH/NIGMS Medical Genetics Training Program. Grant Number: GM08243
- NIH/NICHD (U.S. Department of Health and Human Services). Grant Number: HD22657
- NIH/NCRR. Grant Number: K12 RR017643
- NIH Clinical Research LRP Award. Grant Number: L32MD000625-01
- University Research Committee of Emory University
- sex chromosomal aneuploidies;
- Klinefelter syndrome;
Sex chromosomal aneuploidy is the most common disorder of sex chromosomes in humans, with an incidence of 1 in 400 newborns. The addition of more than one extra X and/or Y chromosome to a normal male karyotype is less frequent and has its own distinctive physical and behavioral profile. This study examines the behavioral similarities and differences in individuals with 48,XXYY compared to 48,XXXY and 49,XXXXY. The participants include 11 males with 48,XXYY and 13 males with 48,XXXY and 49,XXXXY. Using the Vineland Adaptive Behavior, the Achenbach Child Behavior Checklist, and the Reiss Personality Profiles, parents are asked to characterize the behavior and personality of their boys with sex chromosome tetrasomy and pentasomy. Males with 48,XXYY have higher overall adaptive scales in daily living skills, socialization, and communication compared to males with 48,XXXY and 49,XXXXY. Both groups are at risk for maladaptive behavior, although 48,XXYY males are at a higher risk for internalizing and externalizing symptoms. 48,XXXY and 49,XXXXY function at a lower cognitive level and their behavior is often immature for their chronological age. Both groups display interests in helping others, but have a low tolerance for being rejected or teased. Specific recommendations and interventional strategies are provided for individuals with 48,XXYY, 48,XXXY, and 49,XXXXY. © 2007 Wiley-Liss, Inc.