Social function in multiple X and Y chromosome disorders: XXY, XYY, XXYY, XXXY.
Klinefelter syndrome (47,XXY) was initially described in the context of its endocrinologic and physical features; however, subsequent studies have revealed specific impairments in verbal skills and social functioning. Males with sex chromosomal aneuploidies are known to have variability in their developmental profile with the majority presenting with expressive language deficits. As a consequence of language delays, they have an increased likelihood of language-based learning disabilities and social-emotional problems that may persist through adulthood. Studies on males with 47,XXY have revealed unique behavioral and social profiles with possible vulnerability to autistic traits. The prevalence of males with more than one extra sex chromosome (e.g., 48,XXYY and 48,XXXY) and an additional Y (e.g., 47,XYY) is less common, but it is important to understand their social functioning as it provides insight into treatment implications.
Visootsak
Jeannie
J
Department of Human Genetics and Pediatrics, Emory University School of Medicine, Atlanta, Georgia, USA. Jvisoot@emory.edu
Graham
John M
JM
D000782:Aneuploidy; D001321:Autistic Disorder / Q000453:epidemiology / Q000235:genetics; D025063:Chromosome Disorders / Q000453:epidemiology / Q000235:genetics* / Q000523:psychology*; D041321:Chromosomes, Human, X / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D007713:Klinefelter Syndrome / Q000453:epidemiology / Q000235:genetics* / Q000523:psychology*; D007805:Language Development Disorders / Q000453:epidemiology / Q000235:genetics; D008297:Male; D012919:Social Behavior; D011795:Surveys and Questionnaires