期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 143A, 期 11, 页码 1198-1203出版社
WILEY-LISS
DOI: 10.1002/ajmg.a.31746
关键词
sex chromosomal aneuploidies; 48,XXYY; 48,XXXY; 49,XXXXY; Klinefelter syndrome; tetrasomy; pentasomy; behavior
资金
- EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH &HUMAN DEVELOPMENT [P01HD022657] Funding Source: NIH RePORTER
- NATIONAL CENTER FOR RESEARCH RESOURCES [K12RR017643] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES [T32GM008243] Funding Source: NIH RePORTER
- NCRR NIH HHS [K12 RR017643] Funding Source: Medline
- NICHD NIH HHS [L40 HD051024, HD22657] Funding Source: Medline
- NIGMS NIH HHS [GM08243] Funding Source: Medline
- NIMHD NIH HHS [L32MD000625-01] Funding Source: Medline
Sex chromosomal aneuploidy is the most common disorder of sex chromosomes in humans, with an incidence of I 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,XXXY. 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,XXCKY 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. (c) 2007 Wiley-Liss, Inc.
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