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47,XYY syndrome

MedGen UID:
1432905
Concept ID:
CN776922
Disease or Syndrome
Synonyms: Disomy Y; Double Y
Modes of inheritance:
Inheritance with unknown mechanism
MedGen UID:
831588
Concept ID:
CN227389
Intellectual Product
Source: Orphanet
Describes an inherited disorder with unknown mode of inheritance.
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Source: Orphanet
Describes a disorder that is not inherited.
not inherited (Orphanet)
 
Orphanet: ORPHA8

Definition

47, XYY syndrome is a sex chromosome aneuploidy where males receive an additional Y chromosome, and is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGV47,XYY syndrome

Recent clinical studies

Etiology

Campos-Acevedo LD, Ibarra-Ramirez M, de Jesús Lugo-Trampe J, de Jesús Zamudio-Osuna M, Torres-Muñoz I, Del Roble Velasco-Campos M, Rojas-Patlan L, Rodríguez-Sánchez IP, Martínez-de-Villarreal LE
Genet Test Mol Biomarkers 2016 Dec;20(12):786-790. Epub 2016 Oct 19 doi: 10.1089/gtmb.2016.0101. PMID: 27997249
Shah AH, Manjunatha BS, Bindayel NA, Khounganian R
BMJ Case Rep 2013 Dec 5;2013 doi: 10.1136/bcr-2013-010408. PMID: 24311410Free PMC Article
Bardsley MZ, Kowal K, Levy C, Gosek A, Ayari N, Tartaglia N, Lahlou N, Winder B, Grimes S, Ross JL
J Pediatr 2013 Oct;163(4):1085-94. Epub 2013 Jun 27 doi: 10.1016/j.jpeds.2013.05.037. PMID: 23810129Free PMC Article
Ross JL, Roeltgen DP, Kushner H, Zinn AR, Reiss A, Bardsley MZ, McCauley E, Tartaglia N
Pediatrics 2012 Apr;129(4):769-78. Epub 2012 Mar 12 doi: 10.1542/peds.2011-0719. PMID: 22412026Free PMC Article
Ross JL, Zeger MP, Kushner H, Zinn AR, Roeltgen DP
Dev Disabil Res Rev 2009;15(4):309-17. doi: 10.1002/ddrr.85. PMID: 20014371Free PMC Article

Diagnosis

Scheidt L, Sanabe ME, Diniz MB
J Indian Soc Pedod Prev Dent 2015 Oct-Dec;33(4):347-50. doi: 10.4103/0970-4388.165719. PMID: 26381641
Lepage JF, Hong DS, Raman M, Marzelli M, Roeltgen DP, Lai S, Ross J, Reiss AL
Genes Brain Behav 2014 Feb;13(2):127-34. Epub 2013 Dec 6 doi: 10.1111/gbb.12107. PMID: 24308542Free PMC Article
Shah AH, Manjunatha BS, Bindayel NA, Khounganian R
BMJ Case Rep 2013 Dec 5;2013 doi: 10.1136/bcr-2013-010408. PMID: 24311410Free PMC Article
Bardsley MZ, Kowal K, Levy C, Gosek A, Ayari N, Tartaglia N, Lahlou N, Winder B, Grimes S, Ross JL
J Pediatr 2013 Oct;163(4):1085-94. Epub 2013 Jun 27 doi: 10.1016/j.jpeds.2013.05.037. PMID: 23810129Free PMC Article
Ross JL, Roeltgen DP, Kushner H, Zinn AR, Reiss A, Bardsley MZ, McCauley E, Tartaglia N
Pediatrics 2012 Apr;129(4):769-78. Epub 2012 Mar 12 doi: 10.1542/peds.2011-0719. PMID: 22412026Free PMC Article

Therapy

Samango-Sprouse C, Stapleton EJ, Lawson P, Mitchell F, Sadeghin T, Powell S, Gropman AL
Am J Med Genet C Semin Med Genet 2015 Jun;169(2):150-7. Epub 2015 May 1 doi: 10.1002/ajmg.c.31437. PMID: 25939399
He Y, Li X, Wang D, Zhang E, Hu Y, Wang W, Huang R, Xiao R
J Int Med Res 2014 Dec;42(6):1363-73. Epub 2014 Sep 15 doi: 10.1177/0300060514540630. PMID: 25223426
Abdel-Razic MM, Abdel-Hamid IA, ElSobky ES
Andrologia 2012 Jun;44(3):200-4. Epub 2011 Jun 15 doi: 10.1111/j.1439-0272.2010.01129.x. PMID: 21671976
Ruud A, Arnesen P, Stray LL, Vildalen S, Vesterhus P
Dev Med Child Neurol 2005 Aug;47(8):559-62. PMID: 16108458
Bioulac B, Benezech M, Renaud B, Noel B, Roche D
Biol Psychiatry 1980 Dec;15(6):917-23. PMID: 6161648

Prognosis

Le Gall J, Nizon M, Pichon O, Andrieux J, Audebert-Bellanger S, Baron S, Beneteau C, Bilan F, Boute O, Busa T, Cormier-Daire V, Ferec C, Fradin M, Gilbert-Dussardier B, Jaillard S, Jønch A, Martin-Coignard D, Mercier S, Moutton S, Rooryck C, Schaefer E, Vincent M, Sanlaville D, Le Caignec C, Jacquemont S, David A, Isidor B
Eur J Hum Genet 2017 Aug;25(8):930-934. Epub 2017 Jun 14 doi: 10.1038/ejhg.2017.93. PMID: 28612834Free PMC Article
Zhang B, Lu BY, Yu B, Zheng FX, Zhou Q, Chen YP, Zhang XQ
J Int Med Res 2017 Apr;45(2):621-630. Epub 2017 Mar 30 doi: 10.1177/0300060517695008. PMID: 28357876Free PMC Article
Dutra RL, Piazzon FB, Zanardo ÉA, Costa TV, Montenegro MM, Novo-Filho GM, Dias AT, Nascimento AM, Kim CA, Kulikowski LD
Am J Med Genet A 2015 Dec;167A(12):3197-203. Epub 2015 Sep 30 doi: 10.1002/ajmg.a.37360. PMID: 26420477
Samango-Sprouse C, Stapleton EJ, Lawson P, Mitchell F, Sadeghin T, Powell S, Gropman AL
Am J Med Genet C Semin Med Genet 2015 Jun;169(2):150-7. Epub 2015 May 1 doi: 10.1002/ajmg.c.31437. PMID: 25939399
He Y, Li X, Wang D, Zhang E, Hu Y, Wang W, Huang R, Xiao R
J Int Med Res 2014 Dec;42(6):1363-73. Epub 2014 Sep 15 doi: 10.1177/0300060514540630. PMID: 25223426

Clinical prediction guides

Badeau M, Lindsay C, Blais J, Nshimyumukiza L, Takwoingi Y, Langlois S, Légaré F, Giguère Y, Turgeon AF, Witteman W, Rousseau F
Cochrane Database Syst Rev 2017 Nov 10;11:CD011767. doi: 10.1002/14651858.CD011767.pub2. PMID: 29125628
Campos-Acevedo LD, Ibarra-Ramirez M, de Jesús Lugo-Trampe J, de Jesús Zamudio-Osuna M, Torres-Muñoz I, Del Roble Velasco-Campos M, Rojas-Patlan L, Rodríguez-Sánchez IP, Martínez-de-Villarreal LE
Genet Test Mol Biomarkers 2016 Dec;20(12):786-790. Epub 2016 Oct 19 doi: 10.1089/gtmb.2016.0101. PMID: 27997249
Scheidt L, Sanabe ME, Diniz MB
J Indian Soc Pedod Prev Dent 2015 Oct-Dec;33(4):347-50. doi: 10.4103/0970-4388.165719. PMID: 26381641
Ross JL, Roeltgen DP, Kushner H, Zinn AR, Reiss A, Bardsley MZ, McCauley E, Tartaglia N
Pediatrics 2012 Apr;129(4):769-78. Epub 2012 Mar 12 doi: 10.1542/peds.2011-0719. PMID: 22412026Free PMC Article
Ruud A, Arnesen P, Stray LL, Vildalen S, Vesterhus P
Dev Med Child Neurol 2005 Aug;47(8):559-62. PMID: 16108458

Recent systematic reviews

Badeau M, Lindsay C, Blais J, Nshimyumukiza L, Takwoingi Y, Langlois S, Légaré F, Giguère Y, Turgeon AF, Witteman W, Rousseau F
Cochrane Database Syst Rev 2017 Nov 10;11:CD011767. doi: 10.1002/14651858.CD011767.pub2. PMID: 29125628
Margari L, Lamanna AL, Craig F, Simone M, Gentile M
Eur J Pediatr 2014 Mar;173(3):277-83. Epub 2014 Jan 25 doi: 10.1007/s00431-014-2267-9. PMID: 24464091

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