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Individual differences |
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- Not to be confused with XXY syndrome.
Some medical geneticists question whether the term "syndrome" is appropriate for this condition because its phenotype is normal and the vast majority (an estimated 97% in the UK) of 47,XYY males do not know their karyotype.
Most often, this chromosomal change causes no unusual physical features or medical problems. 47,XYY boys and men are usually taller than average and several centimeters taller than their parents and siblings. Severe acne was noted in a very few early case reports, but dermatologists specializing in acne now doubt the existence of a relationship with 47,XYY.
Testosterone levels (prenatally and postnatally) are normal in 47,XYY males. Most 47,XYY males have normal sexual development and usually have normal fertility. Since XYY is not characterized by distinct physical features, the condition is usually detected only during genetic analysis for another reason.
47,XYY boys have an increased risk of learning difficulties (in up to 50%) and delayed speech and language skills. In contrast, a national survey of US children conducted in 2004 for the CDC found that 10% of 46,XY boys had a learning disability.
As with 47,XXY boys and 47,XXX girls, IQ scores of 47,XYY boys average 10–15 points below their siblings. It is important to realize that this amount of variation — an average difference of 12 IQ points — occurs naturally between children in the same family. In 14 prenatally diagnosed 47,XYY boys from high socioeconomic status families, IQ scores available for 6 boys ranged from 100–147 with a mean of 120. For 11 boys with siblings, in 9 instances their siblings were stronger academically, but in one case they were performing equal to and in another case superior to their brothers and sisters.
Developmental delays and behavioral problems are also possible, but these characteristics vary widely among affected boys and men, are not unique to 47,XYY and are managed no differently than in 46,XY males. Aggression is not seen more frequently in 47,XYY males.
47,XYY is not inherited, but usually occurs as a random event during the formation of sperm cells. An error in cell division during metaphase II called nondisjunction can result in sperm cells with an extra copy of the Y chromosome. If one of these atypical sperm cells contributes to the genetic makeup of a child, the child will have an extra Y chromosome in each of the body's cells.
In some cases, the addition of an extra Y chromosome results from nondisjunction during cell division during a post-zygotic mitosis in early embryonic development. This can produce 46,XY/47,XYY mosaics.
The first published report of a man with a 47,XYY karyotype was by Dr. Avery A. Sandberg and colleagues at Roswell Park Memorial Institute in Buffalo, New York in 1961. It was an incidental finding in a normal 44-year-old, 6 ft. [183 cm] tall man of average intelligence who was karyotyped because he had a Down syndrome daughter.
A popular misconception in the 1960s and 1970s that XYY males were more prone to criminal behavior led to several novels and TV series which exploited the idea with little regard to the science. Robin Chapman's 1971 episode of the BBC television science fiction series Doomwatch (entitled 'By The Pricking Of My Thumbs ...') portrayed the tragic results of this misconception being taken as fact by authority figures.
Less sympathetically, Kenneth Royce's series of novels about The XYY Man partially played up to the stereotype, with an anti-hero figure William 'Spider' Scott, whose extra Y chromosome is seen in part to be responsible for his career as a highly skilled (though non-violent) cat-burglar. Royce's books were turned into a TV series in the UK which ran 3 episodes in the summer of 1976 and 10 episodes in the summer of 1977.
In the film Alien 3 (1992) the protagonist lands on a prison planet populated by XYY criminals, with the implication that they are more prone to violence.
- ↑ 1.0 1.1 1.2 1.3 Graham, Gail E.; Allanson, Judith E.; Gerritsen, Jennifer A. (2007). "Sex chromosome abnormalities" Rimoin, David L.; Connor, J. Michael.; Pyeritz, Reed E.; Korf, Bruce R. (eds.) Emery and Rimoin's Principles and Practice of Medical Genetics, 5th ed., pp. 1038–1057, Philadelphia: Churchill Livingstone Elsevier. ISBN 0-443-06870-4.
- ↑ Jacobs, Patricia (March 3–5, 2006). "The genetics of XXY, Trisomy X and XYY syndromes: an overview". National Conference on Trisomy X and XYY, UC Davis M.I.N.D. Institute, DVD 02, Sacramento: KS&A.
- ↑ Plewig, Gerd; Kligman, Albert M. (2000). Acne and Rosacea, 3rd ed., p. 377, Philadelphia: Springer-Verlag. ISBN 3-540-66751-2.
- ↑ Ratcliffe SG, Read G, Pan H, Fear C, Lindenbaum R, Crossley J (1994). Prenatal testosterone levels in XXY and XYY males. Horm Res 42 (3): 106-9. PMID 7995613.
- ↑ 5.0 5.1 5.2 5.3 Guy's Hospital Clinical Genetics Department (2001). The XYY Condition. URL accessed on 2006-09-27.
- ↑ Gardner, R.J. McKinlay; Sutherland, Grant R. (2004). Chromosome Abnormalities and Genetic Counseling, 3rd ed., pp. 29–30, 42, 199, 207, 257, 263, 393, 424–430, Oxford: Oxford University Press. ISBN 0-19-514960-2.
- ↑ 7.0 7.1 7.2 7.3 7.4 Milunsky, Jeff M. (2004). "Prenatal Diagnosis of Sex Chromosome Abnormalities" in Milunsky, Aubrey (ed.) Genetic Disorders and the Fetus : Diagnosis, Prevention, and Treatment, 5th ed., pp. 297–340, Baltimore: The Johns Hopkins University Press. ISBN 0-8018-7928-0.
- ↑ 8.0 8.1 8.2 Nussbaum, Robert L.; McInnes, Roderick R.; Willard, Huntington F. (2004). Thompson & Thompson Genetics in Medicine, Revised Reprint, 6th ed., pp. 172–174, Philadelphia: W.B. Saunders. ISBN 0-7216-0244-4.
- ↑ 9.0 9.1 Beltz, Carin Lea (2005). "XYY Syndrome" in Narins, Brigham (ed.) The Gale Encyclopedia of Genetic Disorders, 2nd ed., pp. 1369–1371, Detroit: Thomson Gale. ISBN 1-4144-0365-8.
- ↑ 10.0 10.1 10.2 Firth, Helen V.; Hurst, Jane A.; Hall, Judith G. (2005). Oxford Desk Reference: Clinical genetics, pp. 498–499, Oxford: Oxford University Press. ISBN 0-19-262896-8.
- ↑ 11.0 11.1 11.2 11.3 National Library of Medicine (2006). Genetics Home Reference: 47,XYY syndrome. URL accessed on 2006-08-28.
- ↑ Bloom B, Dey AN (2006). Summary health statistics for U.S. children: National Health Interview Survey, 2004. Vital Health Stat 10 (227): 1–85. PMID 16532761.
- ↑ Linden MG, Bender BG (2002). Fifty-one prenatally diagnosed children and adolescents with sex chromosome abnormalities. Am J Med Genet 110 (1). PMID 12116265.
- ↑ 14.0 14.1 Robinson DO, Jacobs PA (1999). The origin of the extra Y chromosome in males with a 47,XYY karyotype. Hum Mol Genet 8 (12): 2205–9. PMID 10545600.
- ↑ Sandberg AA, Koepf GF, Ishihara T, Hauschka TS (1961). An XYY human male. Lancet 278 (7200): 488-9. PMID 13746118.
- Nielsen, Johannes (1998). XYY Males. An Orientation. The Turner Center, Aarhus Psychiatric Hospital, Risskov, Denmark.
- XYY information booklet by Dr. Nielsen, a psychiatrist and geneticist who led the longest running of 8 international newborn screening studies of sex chromosome abnormalities.
- Unique (http://www.rarechromo.org)
- has XYY information leaflets available to members and available for purchase to non-members
- Klinefelter Syndrome & Associates (http://www.genetic.org)
- has 2006 Trisomy X and XYY National Conference binders and DVDs available for purchase