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Encyclopedia > XYY syndrome
XYY syndrome
Classification & external resources
Y chromosome
ICD-10 Q98.5
ICD-9 758.8
DiseasesDB 33038
MeSH D014997
Not to be confused with XXY syndrome.

XYY syndrome is an aneuploidy (specifically a trisomy) of the sex chromosomes in which a human male receives an extra Y chromosome, producing a 47,XYY karyotype. Image File history File links No higher resolution available. ... The human Y chromosome is one of two sex chromosomes, it contains the genes that cause testis development, thus determining maleness. ... The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10) is a coding of diseases and signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or diseases, as classified by the World Health Organization (WHO). ... // Q00-Q99 - Congenital malformations, deformations and chromosomal abnormalities (Q00-Q07) Congenital malformations of the nervous system (Q00) Anencephaly and similar malformations (Q01) Encephalocele (Q02) Microcephaly (Q03) Congenital hydrocephalus (Q04) Other congenital malformations of brain (Q05) Spina bifida (Q06) Other congenital malformations of spinal cord (Q07) Other congenital malformations of nervous... The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ... The Disease Bold textDatabase is a free website that provides information about the relationships between medical conditions, symptoms, and medications. ... Medical Subject Headings (MeSH) is a huge controlled vocabulary (or metadata system) for the purpose of indexing journal articles and books in the life sciences. ... XXY karyotype Klinefelters syndrome is a condition caused by a chromosome abnormality in males (specifically, a nondisjunction); sufferers have a pair of X sex chromosomes instead of just one. ... Aneuploidy is a change in the number of chromosomes that can lead to a chromosomal disorder. ... A sex-determination system is a biological system that determines the development of sexual characteristics in an organism. ... Trinomial name Homo sapiens sapiens Linnaeus, 1758 Humans, or human beings, are bipedal primates belonging to the mammalian species Homo sapiens (Latin: wise man or knowing man) in the family Hominidae (the great apes). ... The shield and spear of the Roman god Mars, which is also the alchemical symbol for iron, represents the male sex. ... The human Y chromosome is one of two sex chromosomes, it contains the genes that cause testis development, thus determining maleness. ... Karyogram of human male using Giemsa staining. ...


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.[1][2] In medicine, the term syndrome is the association of several clinically recognizable features, signs, symptoms, phenomena or characteristics which often occur together, so that the presence of one feature alerts the physician to the presence of the others. ... Individuals in the mollusk species Donax variabilis show diverse coloration and patterning in their phenotypes. ... Karyogram of human male using Giemsa staining. ...

Contents

Physical traits

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.[3]


Testosterone levels (prenatally and postnatally) are normal in 47,XYY males.[4] 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. Testosterone is a steroid hormone from the androgen group. ...


Behavioral characteristics

47,XYY boys have an increased risk of learning difficulties (in up to 50%) and delayed speech and language skills.[1][5][6][7][8][9][10][11] 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.[12] The term learning disability is used to refer to socio-biological conditions that affect a persons communicative capacities and potential to learn. ... The Centers for Disease Control and Prevention (CDC) in Atlanta, Georgia, is recognized as the leading United States agency for protecting the public health and safety of people. ...


As with 47,XXY boys and 47,XXX girls, IQ scores of 47,XYY boys average 10–15 points below their siblings.[5][7][8][10] 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.[5] 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.[13]. Not to be confused with XYY syndrome or XXX syndrome. ... Triple X syndrome is a form of chromosomal variation characterized by the presence of an extra X chromosome in each cell of a human female. ... IQ redirects here; for other uses of that term, see IQ (disambiguation). ...


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.[7][11] Aggression is not seen more frequently in 47,XYY males.[1][5][7][8][9].


Cause

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.[11][14] A spermatozoon or spermatozoan ( spermatozoa), from the ancient Greek σπέρμα (seed) and (living being) and more commonly known as a sperm cell, is the haploid cell that is the male gamete. ... Not to be confused with miosis. ... Nondisjunction is the failure of the chromosomes to properly segregate during meiotic or mitotic anaphase, resulting in daughter cells with abnormal numbers of chromosomes. ...


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.[11][14] Mitosis is the process in which a cell duplicates its chromosomes to generate two, identical cells. ... In medicine (genetics), a mosaic or mosaicism denotes the presence of two populations of cells with different genotypes in one patient, where usually one of the two is affected by a genetic disorder. ...


Incidence

About 1 in 1,000 boys are born with a 47,XYY karyotype. The incidence of 47,XYY is not affected by advanced paternal (or maternal) age.[1][7][10]


First case

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.[15] Avery Sandberg, of Buffalo, New York, discovered the XYY syndrome in 1961. ... The Roswell Park Cancer Institute is a cancer research and treatment center located in Buffalo, New York. ... Nickname: Location of Buffalo in New York State County Erie County Government  - Mayor Byron Brown Area  - City 52. ... 1961 (MCMLXI) was a common year starting on Sunday (the link is to a full 1961 calendar). ...


Popular culture

A popular misconception in the 1960s and 1970s that XYY males were more prone to criminal behaviour 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 played up entirely to the stereotype, with an anti-hero figure William 'Spider' Scott, whose extra Y chromosome is seen to be partly responsible for his career as a cat-burglar. Royce's books were turned into a very popular TV series in the UK between 1976-7, further entrenching the popular stereotype. In the film Alien 3 (1992) the protagonist lands on a prison planet populated by XYY criminals, it is implied that they are more prone to violence. Robin Chapman is a British writer and actor, chiefly known for his television work. ... Doomwatch was a British science fiction television programme produced by the BBC, which ran on the BBC1 channel for thirty-seven fifty-minute episodes, plus one unshown, and one part made, in three seasons transmitted on Mondays from 9 February 1970 to 14 August 1972. ... Kenneth Royce, 1984 Kenneth Royce Gandley (b. ... The XYY Man began life as a series of novels by Kenneth Royce, featuring the character of William (or Willie) Spider Scott, a one-time cat-burglar who leaves prison aiming to go straight but finds his talents still to be very much in demand by both the criminal underworld...


See also

Not to be confused with XYY syndrome or XXX syndrome. ... Triple X syndrome is a form of chromosomal variation characterized by the presence of an extra X chromosome in each cell of a human female. ... 48 xxyy syndrome is a sex chromosome anomaly. ...

References

  1. ^ a b c d Graham, Gail E.; Allanson, Judith E.; Gerritsen, Jennifer A. (2007). "Sex chromosome abnormalities", in 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., Philadelphia: Churchill Livingstone Elsevier, pp. 1038-1057. ISBN 0-443-06870-4. 
  2. ^ 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. 
  3. ^ Plewig, Gerd; Kligman, Albert M. (2000). Acne and Rosacea, 3rd ed., Philadelphia: Springer-Verlag, p. 377. ISBN 3-540-66751-2. 
  4. ^ 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. ^ a b c d Guy's Hospital Clinical Genetics Department (2001). The XYY Condition. Retrieved on 2006-09-27.
  6. ^ Gardner, R.J. McKinlay; Sutherland, Grant R. (2004). Chromosome Abnormalities and Genetic Counseling, 3rd ed., Oxford: Oxford University Press, pp. 29-30, 42, 199, 207, 257, 263, 393, 424-430. ISBN 0-19-514960-2. 
  7. ^ a b c d e Milunsky, Jeff M. (2004). "Prenatal Diagnosis of Sex Chromosome Abnormalities", in in Milunsky, Aubrey (ed.): Genetic Disorders and the Fetus : Diagnosis, Prevention, and Treatment, 5th ed., Baltimore: The Johns Hopkins University Press, pp. 297-340. ISBN 0-8018-7928-0. 
  8. ^ a b c Nussbaum, Robert L.; McInnes, Roderick R.; Willard, Huntington F. (2004). Thompson & Thompson Genetics in Medicine, Revised Reprint, 6th ed., Philadelphia: W.B. Saunders, pp. 172-174. ISBN 0-7216-0244-4. 
  9. ^ a b Beltz, Carin Lea (2005). "XYY Syndrome", in in Narins, Brigham (ed.): The Gale Encyclopedia of Genetic Disorders, 2nd ed., Detroit: Thomson Gale, pp. 1369-1371. ISBN 1-4144-0365-8. 
  10. ^ a b c Firth, Helen V.; Hurst, Jane A.; Hall, Judith G. (2005). Oxford Desk Reference: Clinical genetics. Oxford: Oxford University Press, pp. 498-499. ISBN 0-19-262896-8. 
  11. ^ a b c d National Library of Medicine (2006). Genetics Home Reference: 47,XYY syndrome. Retrieved on 2006-08-28.
  12. ^ 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. 
  13. ^ 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. ^ a b 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. 
  15. ^ Sandberg AA, Koepf GF, Ishihara T, Hauschka TS (1961). An XYY human male. Lancet 278 (7200): 488-9. PMID 13746118. 

The University of California, Davis, commonly known as UC Davis, is one of the ten campuses of the University of California, and was established as the University Farm in 1905. ... The UC Davis M.I.N.D. Institute (Medical Investigation of Neurodevelopmental Disorders) research and treatment center affiliated with the University of California, Davis, with facilities located on the UC Davis Medical Center campus in Sacramento, California. ... For the Manfred Mann album, see 2006 (album). ... September 27 is the 270th day of the year (271st in leap years) in the Gregorian calendar. ... For the Manfred Mann album, see 2006 (album). ... August 28 is the 240th day of the year (241st in leap years) in the Gregorian calendar. ...

External links

  • Guy's Hospital Clinical Genetics Department (2001). The XYY Condition
  • 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

  Results from FactBites:
 
XYY syndrome: Encyclopedia of Genetic Disorders (1169 words)
XYY syndrome is a chromosome disorder that affects males.
XYY syndrome occurs when an extra Y chromosome is present in the cells of an affected individual.
Males who have XYY syndrome are usually normal in length at birth, but have rapid growth in childhood, typically averaging in the 75th percentile (taller than 75% of males their same age).
Hypogonadism: Encyclopedia of Children's Health (2621 words)
Males who have XYY syndrome are usually normal in length at birth but have rapid growth in childhood, typically averaging in the seventy-fifth percentile (taller than 75 percent of males their same age).
Kallman's syndrome is a disorder of hypogonadotropic hypogonadism, delayed puberty, and anosmia (the inability to smell).
Kallman's syndrome is a birth defect in the brain that prevents release of hormones and appears as failure of male puberty.
  More results at FactBites »

 
 

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