{{위키데이터 속성 추적}}
{{다른 뜻 넘어옴|Xyy|색 모델|CIE 1931 색 공간}}
{{질병 정보 (신규)
 | 그림           = Chromosome Y.svg
 | 그림설명     = [[Y 염색체]]
}}
'''XYY 증후군'''({{llang|en|XYY syndrome}})은 [[인간]] [[남성]]이 [[Y 염색체]]가 하나 더 있어서 일반 46개의 염색체가 아닌 총 47개의 염색체가 있는 [[성 염색체]] [[이수성 (생물학)|이수성]] 증후군이다. '''초남성 증후군''', '''야콥 증후군''', '''제이콥스 증후군'''으로도 불린다. 이 증후군은 '''47,XYY''' [[핵형]]을 만들어내는데, 이는 1,000명의 출생 남아(男兒) 가운데 1명에게 발생한다.

의학적 [[표현형]]은 정상이고<ref name="Allanson 2007"/><ref name="Milunsky 2010">{{서적 인용 |author=Milunsky, Jeff M. |year=2010 |chapter=Prenatal diagnosis of sex chromosome abnormalities |pages=[https://archive.org/details/geneticdisorders0006unse/page/273 273]–312 |editor=Milunsky, Aubrey; Milunsky, Jeff M. (eds.) |제목=Genetic disorders and the fetus: diagnosis, prevention and treatment |url=https://archive.org/details/geneticdisorders0006unse |edition=6th |location=Oxford |publisher=[[Wiley-Blackwell]] |isbn=1-4051-9087-6|quote=The addition of a Y chromosome to a normal male chromosome constitution does not produce a discernible phenotype. Males with 47,XYY cannot be characterized by discriminating physical or behavioral features. The first diagnosis of this condition, therefore, was a karyotypic and not a phenotypic discovery.<br />Pubertal development is normal and these men are usually fertile.}}</ref> 47,XYY 남성 중 대다수가 자신의 [[핵형]]을 알지 못하기 때문에<ref name="Jacobs 2006">{{서적 인용 |author=Jacobs, Patricia A. |month=March 3–5, |year=2006 |제목=The discovery and history of Trisomy X and XYY syndrome |booktitle=National Conference on Trisomy X and XYY, [[University of California, Davis|UC Davis]] [[MIND Institute|M.I.N.D. Institute]], |location=Sacramento |volume=DVD 02 |url=http://www.genetic.org/knowledge/support/store/C210/#Genetics |publisher=KS&A |확인날짜=2009년 1월 30일 |보존url=https://web.archive.org/web/20090130062117/http://www.genetic.org/knowledge/support/store/C210/#Genetics |보존날짜=2009년 1월 30일 |url-status=dead }}<br />Oxford Data Base — XYY total ascertainment: ~ 3% — 934 XYYs (801 XYYs + 133 XYY mosaics) in Britain (population 60 million)</ref>, 일부 의학 유전학자들 사이에서는 이 용어를 [[증후군]]으로 부르는 것이 적절한지에 대한 논란이 있다.<ref name="Allanson 2007">{{서적 인용 |author=Graham, Gail E.; Allanson, Judith E.; Gerritsen, Jennifer A. |year=2007 |chapter=Sex chromosome abnormalities |editor=Rimoin, David L.; Connor, J. Michael.; Pyeritz, Reed E.; Korf, Bruce R. (eds.) |제목=Emery and Rimoin's principles and practice of medical genetics |edition=5th |pages=1038–1057 |location=Philadelphia |publisher=[[Churchill Livingstone|Churchill Livingstone Elsevier]] |isbn=0-443-06870-4|quote=This sex chromosome aneuploidy is not characterized by distinct physical features and, because there does not appear to be recognizable pattern of neurodevelopment or behavioral characteristics, the use of the term ''syndrome'' may be inappropriate. Males with an extra Y chromosome are phenotypically normal and most never come to medical attention.<br />Pubertal development, testicular histology, and spermatogenesis are most often normal.<br />It appears that XY pairing and recombination occur normally in 47,XYY, the extra Y chromosome being lost during spermatogenesis, so that many XYY men have fathered chromosomally normal children. It has generally been observed that reproductive risks for males with 47,XYY are no higher than for euploid males, despite the fact that ''in situ'' hybridization studies demonstrated a lower frequency of single Y-bearing sperm than expected and a variably higher rate of disomic XX, XY and YY spermatozoa in males with 47,XYY.<br />Population-based studies have demonstrated that intellectual abilities tend to be slightly lower than those of siblings and matched controls and that boys with an extra Y chromosome are more likely to require educational help. However, intelligence is usually well within the normal range.<br />During school age, learning disabilities requiring educational intervention are present in approximately 50% and are as responsive to therapy as they are in children with normal chromosomes. Expressive and receptive language delays and reading disorders are common.}}</ref>

== 원인 ==
[[파일:XYY syndrome.svg|섬네일|오른쪽]]
47,XYY는 유전되는 것은 아니지만, 일반적으로 [[정자]] 세포의 형성 기간 동안 무작위로 발생한다. 비분열(비분리)로 불리는, [[감수 분열]] 2단계의 염색체 분리 오류가 발생하면 Y 염색체가 하나 더 생기는 정자 세포가 생산될 수 있다. 이 비정상적인 정자 세포들 가운데 하나가 아이의 유전적 구성에 기여하는 경우 아이는 몸 세포 각각에 Y 염색체가 하나 더 붙게 된다.<ref name="Robinson 1999">{{저널 인용 |author=Robinson, David O.; Jacobs, Patricia A. |date=November 1, 1999 |제목=The origin of the extra Y chromosome in males with a 47,XYY karyotype |journal=[[Human Molecular Genetics|Hum Mol Genet]] |volume=8 |issue=12 |pages=2205–2209 |pmid=10545600 |url=http://hmg.oxfordjournals.org/cgi/reprint/8/12/2205.pdf |doi=10.1093/hmg/8.12.2205 }}{{깨진 링크|url=http://hmg.oxfordjournals.org/cgi/reprint/8/12/2205.pdf }}</ref>

초기 태아 단계의 접합자 이후 [[유사 분열]] 시기에 세포 분열을 하다가 비분열(비분리)이 일어나 Y 염색체가 하나 더 붙는 경우도 일부 있다. 이는 46,XY/47,XYY [[모자이크 (유전학)|모자이크]]가 생성될 수 있다.<ref name="Robinson 1999"/>

== 같이 보기 ==
{{위키공용분류}}
* [[클라인펠터 증후군]]
* [[세 쌍 X염색체 증후군]]
* [[터너 증후군]]
* [[XXYY 증후군]]

== 각주 ==
<references />

== 외부 링크 ==
{{Medical resources
| DiseasesDB      = 33038
| ICD10           = {{ICD10|Q|98|5|q|90}}
| ICD9            = {{ICD9|758.8}}
| ICDO            = 
| OMIM            = 
| MedlinePlus     = 
| eMedicineSubj   = 
| eMedicineTopic  = 
| MeshID          = D014997
| Orphanet        = 8
| SNOMED CT       = 50749006
}}


* Nielsen, Johannes (1998). [https://web.archive.org/web/20100307091453/http://www.aaa.dk/TURNER/ENGELSK/XYY.HTM 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 7 international newborn screening studies of sex chromosome abnormalities.
* [https://web.archive.org/web/20120223234151/http://www.cafamily.org.uk/Direct/x15.html XYY syndrome page] on the [[Contact a Family]] Directory website
** has background and medical information and details of UK support groups

{{염색체이상}}
{{전거 통제}}
{{기본정렬:Xyy 증후군}}

[[분류:성염색체 이수성]]
[[분류:희귀 증후군]]