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47,XYY Karyotype

MedGen UID:
22739
•Concept ID:
C0043379
•
Congenital Abnormality
Synonyms: Karyotype, XYY; Karyotypes, XYY; XYY Karyotype; XYY Karyotypes

Definition

An abnormal sex chromosome karyotype where the individual has one X chromosome and has two copies of the Y chromosome. The normal autosomal karyotype is present. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV47,XYY Karyotype
Follow this link to review classifications for 47,XYY Karyotype in Orphanet.

Professional guidelines

PubMed

Impact of early diagnosis and noninvasive prenatal testing (NIPT): Knowledge, attitudes, and experiences of parents of children with sex chromosome aneuploidies (SCAs).
Samango-Sprouse CA, Porter GF, Lasutschinkow PC, Tran SL, Sadeghin T, Gropman AL
Prenat Diagn 2020 Mar;40(4):470-480. Epub 2019 Dec 4 doi: 10.1002/pd.5580. PMID: 31661555
Genetic evaluation of severe male factor infertility in Turkey: a cross-sectional study.
Cavkaytar S, Batioglu S, Gunel M, Ceylaner S, Karaer A
Hum Fertil (Camb) 2012 Jun;15(2):100-6. doi: 10.3109/14647273.2012.685923. PMID: 22524445
The XYY genotype.
Walzer S, Gerald PS, Shah SA
Annu Rev Med 1978;29:568-70. doi: 10.1146/annurev.me.29.020178.003023. PMID: 348046

Recent clinical studies

Etiology

Reproductive outcomes of 3 infertile males with XYY syndrome: Retrospective case series and literature review.
Zhang X, Liu X, Xi Q, Zhu H, Li L, Liu R, Yu Y
Medicine (Baltimore) 2020 Feb;99(9):e19375. doi: 10.1097/MD.0000000000019375. PMID: 32118782Free PMC Article
Electroclinical findings in four patients with karyotype 47,XYY.
Torniero C, Bernardina BD, Fontana E, Darra F, Danesino C, Elia M
Brain Dev 2011 May;33(5):384-9. Epub 2010 Sep 16 doi: 10.1016/j.braindev.2010.07.010. PMID: 20817432
A dispermic chimera with mixed field blood group B and mosaic 46,XY/47,XYY karyotype.
Cho D, Lee SK, Yazer MH, Shin MG, Shin JH, Suh SP, Song JW, Jeon MJ, Kim JY, Park JT, Ryang DW
J Korean Med Sci 2007 Jun;22(3):553-6. doi: 10.3346/jkms.2007.22.3.553. PMID: 17596670Free PMC Article
Meiotic segregation of sex chromosomes in mosaic and non-mosaic XYY males: case reports and review of the literature.
Rives N, Siméon N, Milazzo JP, Barthélémy C, Macé B
Int J Androl 2003 Aug;26(4):242-9. doi: 10.1046/j.1365-2605.2003.00421.x. PMID: 12846800
XYY syndrome and other Y chromosome polysomies. Mental status and psychosocial functioning.
Fryns JP, Kleczkowska A, Kubień E, Van den Berghe H
Genet Couns 1995;6(3):197-206. PMID: 8588846

Diagnosis

Detection of chromosomal aneuploidy in ancient genomes.
Anastasiadou K, Silva M, Booth T, Speidel L, Audsley T, Barrington C, Buckberry J, Fernandes D, Ford B, Gibson M, Gilardet A, Glocke I, Keefe K, Kelly M, Masters M, McCabe J, McIntyre L, Ponce P, Rowland S, Ruiz Ventura J, Swali P, Tait F, Walker D, Webb H, Williams M, Witkin A, Holst M, Loe L, Armit I, Schulting R, Skoglund P
Commun Biol 2024 Jan 11;7(1):14. doi: 10.1038/s42003-023-05642-z. PMID: 38212558Free PMC Article
Pituitary hyperplasia with Sertoli cell-only and 47,XYY syndromes: an uncommon triad.
Ra AG, Evans PJ, Awasthi A, Srinivas-Shankar U
BMJ Case Rep 2020 May 14;13(5) doi: 10.1136/bcr-2019-233100. PMID: 32414773Free PMC Article
A patient with 46,XY/47,XYY karyotype and female phenotype: a case report.
Liu ZH, Zhou SC, Du JW, Zhang K, Wu T
BMC Endocr Disord 2020 Mar 24;20(1):42. doi: 10.1186/s12902-020-0523-8. PMID: 32209072Free PMC Article
XYY syndrome and other Y chromosome polysomies. Mental status and psychosocial functioning.
Fryns JP, Kleczkowska A, Kubień E, Van den Berghe H
Genet Couns 1995;6(3):197-206. PMID: 8588846
Prenatal detection of the 47, XYY karyotype.
Goldenberg RL, Finley SC
Lancet 1978 Aug 26;2(8087):465-6. doi: 10.1016/s0140-6736(78)91458-7. PMID: 79819

Therapy

Continuous spikes and waves during slow sleep in a child with karyotype 47, XYY.
Cianci V, Ferlazzo E, De Martino G, Vinci A, Gasparini S, Tripodi GG, Aguglia U
Epileptic Disord 2014 Jun;16(2):223-6. doi: 10.1684/epd.2014.0651. PMID: 24776967
Association between venous leg ulcers and sex chromosome anomalies in men.
Gattringer C, Scheurecker C, Höpfl R, Müller H
Acta Derm Venereol 2010 Nov;90(6):612-5. doi: 10.2340/00015555-0949. PMID: 21057745

Prognosis

A patient with 46,XY/47,XYY karyotype and female phenotype: a case report.
Liu ZH, Zhou SC, Du JW, Zhang K, Wu T
BMC Endocr Disord 2020 Mar 24;20(1):42. doi: 10.1186/s12902-020-0523-8. PMID: 32209072Free PMC Article
Difficult diagnosis and management of an heterokaryotypic monochorionic twin pregnancy with discordant fetal sex and 45,X/47,XYY karyotypes.
Bohec C, Douet-Guilbert N, Basinko A, Le Bris MJ, Marcorelles P, Audrézet MP, Tetefort R, Bages K, Collet M, Morel F, De Braekeleer M
Fetal Pediatr Pathol 2010;29(6):424-30. doi: 10.3109/15513815.2010.505630. PMID: 21043568
Psychotic disorder and focal epilepsy in a left-handed patient with chromosome XYY abnormality.
Verri AP, Galimberti CA, Perucca P, Cremante A, Vernice M, Uggetti A
Genet Couns 2008;19(4):373-9. PMID: 19239080
No evidence of increased risk for schizophrenia or bipolar affective disorder in persons with aneuploidies of the sex chromosomes.
Mors O, Mortensen PB, Ewald H
Psychol Med 2001 Apr;31(3):425-30. doi: 10.1017/s0033291701003476. PMID: 11305850
Total body potassium content in males with X and Y chromosome abnormalities.
East BW, Boddy K, Price WH
Clin Endocrinol (Oxf) 1976 Jan;5(1):43-51. PMID: 1248158

Clinical prediction guides

Meiotic Behavior of Extra Sex Chromosomes in Patients with the 47,XXY and 47,XYY Karyotype and Its Ultimate Consequences for Spermatogenesis.
Iqbal F
Crit Rev Eukaryot Gene Expr 2020;30(1):19-37. doi: 10.1615/CritRevEukaryotGeneExpr.2020026203. PMID: 32421982
A patient with 46,XY/47,XYY karyotype and female phenotype: a case report.
Liu ZH, Zhou SC, Du JW, Zhang K, Wu T
BMC Endocr Disord 2020 Mar 24;20(1):42. doi: 10.1186/s12902-020-0523-8. PMID: 32209072Free PMC Article
Early manifestations in a cohort of children prenatally diagnosed with 47,XYY. Role of multidisciplinary counseling for parental guidance and prevention of aggressive behavior.
Lalatta F, Folliero E, Cavallari U, Di Segni M, Gentilin B, Fogliani R, Quagliarini D, Vizziello P, Monti F, Gargantini L
Ital J Pediatr 2012 Oct 3;38:52. doi: 10.1186/1824-7288-38-52. PMID: 23034220Free PMC Article
Meiotic segregation of sex chromosomes in mosaic and non-mosaic XYY males: case reports and review of the literature.
Rives N, Siméon N, Milazzo JP, Barthélémy C, Macé B
Int J Androl 2003 Aug;26(4):242-9. doi: 10.1046/j.1365-2605.2003.00421.x. PMID: 12846800
Recombination in the pseudoautosomal region in a 47,XYY male.
Martin RH, Shi Q, Field LL
Hum Genet 2001 Aug;109(2):143-5. doi: 10.1007/s004390100566. PMID: 11511918

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