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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

Howard-Bath A, Poulton A, Halliday J, Hui L
Prenat Diagn 2018 Dec;38(13):1062-1068. Epub 2018 Oct 30 doi: 10.1002/pd.5363. PMID: 30255507
Ottesen AM, Garn ID, Aksglaede L, Juul A, Rajpert-De Meyts E
Mol Hum Reprod 2007 Oct;13(10):745-50. Epub 2007 Aug 24 doi: 10.1093/molehr/gam053. PMID: 17720778
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

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
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
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
Mors O, Mortensen PB, Ewald H
Psychol Med 2001 Apr;31(3):425-30. doi: 10.1017/s0033291701003476. PMID: 11305850
Fryns JP, Kleczkowska A, Kubień E, Van den Berghe H
Genet Couns 1995;6(3):197-206. PMID: 8588846

Diagnosis

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
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
Writzl K, Hoovers J, Sistermans EA, Hennekam RC
Am J Med Genet A 2007 Nov 1;143A(21):2612-5. doi: 10.1002/ajmg.a.31991. PMID: 17935252
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
Fryns JP, Kleczkowska A, Kubień E, Van den Berghe H
Genet Couns 1995;6(3):197-206. PMID: 8588846

Therapy

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
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

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
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
Verri AP, Galimberti CA, Perucca P, Cremante A, Vernice M, Uggetti A
Genet Couns 2008;19(4):373-9. PMID: 19239080
Mors O, Mortensen PB, Ewald H
Psychol Med 2001 Apr;31(3):425-30. doi: 10.1017/s0033291701003476. PMID: 11305850
East BW, Boddy K, Price WH
Clin Endocrinol (Oxf) 1976 Jan;5(1):43-51. PMID: 1248158

Clinical prediction guides

Iqbal F
Crit Rev Eukaryot Gene Expr 2020;30(1):19-37. doi: 10.1615/CritRevEukaryotGeneExpr.2020026203. PMID: 32421982
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
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
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
Mors O, Mortensen PB, Ewald H
Psychol Med 2001 Apr;31(3):425-30. doi: 10.1017/s0033291701003476. PMID: 11305850

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