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Not to be confused with XXY (Klinefelter's syndrome). Klinefelter's syndrome, 47XXY or XXY syndrome is a condition caused by a Chromosome Aneuploidy.
XYY syndrome
Classification and external resources
Y chromosome
ICD-10 Q98.5
ICD-9 758.8
DiseasesDB 33038
MeSH D014997

XYY syndrome is an aneuploidy of the sex chromosomes in which a human male receives an extra Y chromosome, producing a 47,XYY karyotype. The Y chromosome is the sex-determining Chromosome in most Mammals including Humans In mammals it contains the gene SRY, which triggers The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify Diseases The International Statistical Classification of Diseases and Related Health Problems 10th Revision ( ICD -10) is a coding of diseases and signs symptoms abnormal findings Q00-Q89 - Congenital malformations and deformations (Q00-Q07 Nervous system ( Anencephaly and similar malformations The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify Diseases The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. The Diseases Database 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 Aneuploidy is defined as an abnormal number of Chromosomes Syndromes caused by an extra or missing chromosome are among the most widely recognized Genetic disorders A sex-determination system is a biological system that determines the development of sexual characteristics in an Organism. Human beings, humans or man (Origin 1590–1600 L homō man OL hemō the earthly one (see Humus Male (♂ refers to the sex of an organism or part of an organism which produces small mobile Gametes called spermatozoa. The Y chromosome is the sex-determining Chromosome in most Mammals including Humans In mammals it contains the gene SRY, which triggers A karyotype is the characteristic Chromosome complement of a Eukaryote Species.

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. In Medicine and Psychology, the term syndrome refers to the association of several clinically recognizable features signs (observed by a physician A phenotype is any observable characteristic of an Organism, such as its morphology, Development, biochemical or physiological properties A karyotype is the characteristic Chromosome complement of a Eukaryote Species. [1][2]

Contents

Physical traits

Most often, the extra Y chromosome causes no unusual physical features or medical problems. 47,XYY boys have an increased growth velocity during earliest childhood, with an average final height approximately 7 cm above expected final height. [3] 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. Acne vulgaris (commonly called acne) is a Skin disease caused by changes in the Pilosebaceous units (skin structures consisting of a Hair follicle [4]

Testosterone levels (prenatally and postnatally) are normal in 47,XYY males. Testosterone is a Steroid hormone from the Androgen group In mammals testosterone is primarily secreted in the testes of males and the Ovaries [5] 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.

Behavioral characteristics

47,XYY boys have an increased risk of learning difficulties (in up to 50%) and delayed speech and language skills. In the United States and Canada, the term learning disability (LD refers to a group of disorders that affect a broad range of academic and functional skills including [1][6][7][8][9][10][11][12] In contrast, a national survey of US children conducted in 2004 for the CDC found that 10% of 47,XYY boys had a learning disability. The Centers for Disease Control and Prevention (or CDC) is an agency of the United States Department of Health and Human Services based in unincorporated [13]

As with 47,XXY boys and 47,XXX girls, IQ scores of 47,XYY boys average 10–15 points below their siblings. Klinefelter's syndrome, 47XXY or XXY syndrome is a condition caused by a Chromosome Aneuploidy. 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 An Intelligence Quotient or IQ is a score derived from one of several different Standardized tests attempting to measure Intelligence. [6][8][9][11] 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. [6] 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. [14]

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. [8][12] Aggression is not seen more frequently in 47,XYY males. [1][6][8][9][10]

Cause

47,XYY is not inherited, but usually occurs as a random event during the formation of sperm cells. A spermatozoon or spermatozoan ( pl spermatozoa) from the Ancient Greek σπέρμα (seed and ζῷον (living being and more commonly known An error in chromosome separation during metaphase I or metaphase II called nondisjunction can result in sperm cells with an extra copy of the Y chromosome. In Biology or life science meiosis (pronounced my-oh-sis is a process of reductional division in which the number of chromosomes per cell is cut in half In Biology or life science meiosis (pronounced my-oh-sis is a process of reductional division in which the number of chromosomes per cell is cut in half Nondisjunction is the failure of chromosome pairs to separate properly during cell division 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. [12][15]

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. Mitosis is the process in which a Eukaryotic cell separates the Chromosomes in its Cell nucleus, into two identical sets in two daughter nuclei This can produce 46,XY/47,XYY mosaics. In Medicine ( Genetics) a mosaic or mosaicism denotes the presence of two populations of cells with different Genotypes in one [12][15]

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][8][11]

First case

The first published report of a man with a 47,XYY karyotype was by Avery A. Sandberg and colleagues at Roswell Park Memorial Institute in Buffalo, New York in 1961. Dr Avery A Sandberg and colleagues in Buffalo New York published the first report of a man with a 47XYY karyotype in 1961 The Roswell Park Cancer Institute (RPCI is a comprehensive Cancer research and treatment center located in Buffalo New York. Buffalo (ˈbʌfəloʊ is the second largest city in New York State. Year 1961 ( MCMLXI) was a Common year starting on Sunday (link will display full calendar of the Gregorian calendar. 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 daughter with Down syndrome. Down syndrome, Down's syndrome, or trisomy 21 is a Chromosomal disorder caused by the presence of all or part of an extra 21st chromosome. [16][17]

47,XYY was the last of the common sex chromosome aneuploidies to be discovered, two years after the discoveries of 47,XXY, 45,X, and 47,XXX in 1959. Klinefelter's syndrome, 47XXY or XXY syndrome is a condition caused by a Chromosome Aneuploidy. Turner syndrome or Ullrich-Turner syndrome encompasses several conditions of which monosomy X is the most common 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 Even the much less common 48,XXYY had been discovered in 1960, a year before 47,XYY. 48XXYY syndrome is a Sex chromosome anomaly It was previously considered to be a variation of Klinefelter's syndrome. Screening for these X chromosome aneuploidies was possible by noting the presence or absence of "female" sex chromatin bodies (Barr bodies) in the nuclei of interphase cells in buccal smears, a technique developed a decade before the first reported sex chromosome aneuploidy. The X chromosome is one of the two sex-determining Chromosomes in many animal species including mammals (the other is the Y chromosome) In those species (including humans in which sex is determined by the presence of the Y or X Chromosome rather than the diploidy of the X or Z a Barr body is In Cell biology, the nucleus (pl nuclei; from Latin la ''nucleus'' or la ''nuculeus'' "little nut" or kernel is a membrane-enclosed Interphase is the phase of the Cell cycle in which the cell spends the majority of its time and performs the majority of its purposes including preparation for Cell Genetic testing allows the genetic Diagnosis of vulnerabilities to inherited Diseases, and can also be used to determine a person's Ancestry. [18]

An analogous technique to screen for Y chromosome aneuploidies by noting supernumerary "male" sex chromatin bodies was not developed until 1970, a decade after the first reported sex chromosome aneuploidy. The Y chromosome is the sex-determining Chromosome in most Mammals including Humans In mammals it contains the gene SRY, which triggers [19][20] In December 1969, Lore Zech at the Karolinska Institute in Stockholm first reported intense fluorescence of the AT-rich distal half of the long arm of the Y chromosome in the nuclei of metaphase cells treated with quinacrine mustard. Karolinska Institutet (often translated from Swedish into English as the Karolinska Institute, and in older texts often as the Royal Caroline ('stɔkhɔlm is Sweden 's Capital and its largest City. It is the site of the national Swedish government, the parliament, and the Fluorescence is a Luminescence that is mostly found as an Adenine is a Purine with a variety of roles in Biochemistry including Cellular respiration, in the form of both the energy-rich Adenosine Thymine is one of the four bases in the Nucleic acid of DNA that make up the letters ATGC Metaphase from the Ancient Greek μετά (after and φάσις (stage is a stage of Mitosis in the eukaryotic Cell cycle in which Quinacrine (trade name Atabrine) is a drug with a number of different medical applications being initially used in the 1930s as an Antimalarial drug [21] Four months later, in April 1970, Peter L. Pearson and Martin Bobrow at the MRC Population Genetics Unit in Oxford and Canino G. The Medical Research Council (MRC is a UK organisation dedicated to "promot the balanced development of medical and related biological research Oxford is currently bidding for the 2010 Wikimania Conference Oxford () is a city, and the County town of Oxfordshire, Vosa at the University of Oxford reported fluorescent "male" sex chromatin bodies in the nuclei of interphase cells in buccal smears treated with quinacrine dihdyrochloride. The University of Oxford (informally "Oxford University" or simply "Oxford" located in the city of Oxford, Oxfordshire, England is the [22]

Fictional depictions

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 (titled 'By The Pricking Of My Thumbs . Robin Chapman is a British Writer and Actor, chiefly known for his television work Doomwatch is a British science fiction television programme produced by the BBC, which ran on BBC One between 1970 and 1972 . . ') 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. For the American author Kenneth W Royce (aka Boston T Party see Kenneth W 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 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 commit assault, rape or molestation. Alien 3, styled as Alien³, is a 1992 Science fiction / Horror film (see 1992 in film)

The short story "The Procrustean Petard," a Star Trek-based short story by Sondra Marshak and Myrna Culbreath, depicted a story where the crew of the Enterprise had their genders reversed, all but Spock who'd instead been given an extra Y chromosome. McCoy was concerned whether Spock's emotional control could handle the "hyper masculinity" the extra Y would cause, worried that he might become prone to emotional outbursts, even violence.

In the episode "Born Bad" of the show Law & Order the defense strategy for Chris Paulit, a young boy accused of beating to death another boy, is his extra Y chromosome. Law & Order is an American Police procedural and Legal drama television series created by Dick Wolf. Experts are called to testify that the XYY syndrome is more common among the prison population.

See also

References

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  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. The University of California Davis, commonly known as UC Davis, or just UCD, is a public coeducational university located in the city of Davis, The UC Davis MIND Institute (Medical Investigation of Neurodevelopmental Disorders research and treatment center affiliated with the University of California Davis  
  3. ^ Nielsen, Johannes (1998). How is height growth?. XYY Males. An Orientation. The Turner Center, Aarhus Psychiatric Hospital, Risskov, Denmark. Geography The city lies roughly at the geographical centre of Denmark on the peninsula of Risskov is one of the most affluent areas in Denmark, and a district to the city of Aarhus. The Kingdom of Denmark ( ˈd̥ænmɑɡ̊ (archaic ˈd̥anmɑːɡ̊ commonly known as Denmark, is a country in the Scandinavian region of northern Europe Retrieved on 2008-01-11. 2008 ( MMVIII) is the current year in accordance with the Gregorian calendar, a Leap year that started on Tuesday of the Common Events 1055 - Theodora is crowned Empress of the Byzantine Empire.
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  5. ^ 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.  
  6. ^ a b c d Guy's Hospital Clinical Genetics Department (2001). The XYY Condition. Retrieved on 2006-09-27. Year 2006 ( MMVI) was a Common year starting on Sunday of the Gregorian calendar. Events 489 - Odoacer attacks Theodoric at the Battle of Verona and is defeated again
  7. ^ 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.  
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