Synonyms
47, XYY; 48, XYYY
Definition and Characteristics
47, XYY is characterized by addition of an extra Y chromosome to a male 46,XY karyotype. Since this aneuploidy is not characterized by distinctive physical features nor reduced fertility or a recognizable developmental pattern, the vast majority of 47,XYY individuals do not come to medical attention. The additional Y chromosome derives from nondisjunction during paternal meiosis II or (less frequently) post-zygotic mitotic nondisjunction [1]. The condition is not associated with increased paternal age and it is not subject to negative selection before birth. Individuals carrying poly-Y karyotypes with three Y chromosomes are usually identified by tall stature and behavioral disturbances.
Prevalence
47, XYY occurs in 1:1000 male births, 48, XYYY Poly-Y karyotypes containing three Y chromosomes are very rare.
Molecular and Systemic Pathophysiology
Growth and physical development: Weight and length of newborns with an extra...
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References
Robinson DO, Jacobs PA (1999) The origin of the extra Y chromosome in males with a 47, XYY karyotype. Hum Mol Genet (12):2205–2209
Fryns JP (1998) Mental status and psychosocial functioning in XYY males. Prenat Diagn 18(3):303–304
Linden MG, Bender BG, Robinson A (1996) Intrauterine diagnosis of sex chromosome aneuploidy. Obstet Gynecol 87(3):468–475
Robinson A, Bender BG, Linden MG (1992) Prognosis of prenatally diagnosed children with sex chromosome aneuploidy. Am J Med Genet 44(3):365–368
Gotz MJ, Johnstone EC, Ratcliffe SG (1999) Criminality and antisocial behavior in unselected men with sex chromosome abnormalities. Psychol Med. 29(4):953–962
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© 2009 Springer-Verlag GmbH Berlin Heidelberg
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Bartholdi, D., Schinzel, A. (2009). Y Polysomies, in Males. In: Lang, F. (eds) Encyclopedia of Molecular Mechanisms of Disease. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-29676-8_1908
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DOI: https://doi.org/10.1007/978-3-540-29676-8_1908
Publisher Name: Springer, Berlin, Heidelberg
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