{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T22:35:22Z","timestamp":1791326122912,"version":"4.3.1"},"reference-count":29,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2014,1,25]],"date-time":"2014-01-25T00:00:00Z","timestamp":1390608000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Pediatr"],"published-print":{"date-parts":[[2014,3]]},"DOI":"10.1007\/s00431-014-2267-9","type":"journal-article","created":{"date-parts":[[2014,1,24]],"date-time":"2014-01-24T08:52:38Z","timestamp":1390553558000},"page":"277-283","source":"Crossref","is-referenced-by-count":32,"title":["Autism spectrum disorders in XYY syndrome: two new cases and systematic review of the literature"],"prefix":"10.1007","volume":"173","author":[{"given":"Lucia","family":"Margari","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna Linda","family":"Lamanna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Craig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Simone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mattia","family":"Gentile","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2014,1,25]]},"reference":[{"key":"2267_CR1","doi-asserted-by":"crossref","first-page":"151","DOI":"10.33588\/rn.40S01.2005073","volume":"40","author":"J Artigas-Pallar\u00e9s","year":"2005","unstructured":"Artigas-Pallar\u00e9s J, Gabau-Vila E, Guitart-Feliubadal\u00f2 M (2005) Syndromic autism: II. Genetic syndromes associated with autism. Rev Neurol 40:151\u2013162","journal-title":"Rev Neurol"},{"key":"2267_CR2","doi-asserted-by":"crossref","first-page":"903","DOI":"10.1111\/j.1651-2227.2011.02150.x","volume":"100","author":"DV Bishop","year":"2011","unstructured":"Bishop DV, Scerif G (2011) Klinefelter syndrome as a window on the aetiology of language and communication impairments in children: the neuroligin-neurexin hypothesis. Acta Paediatr 100:903\u2013907","journal-title":"Acta Paediatr"},{"key":"2267_CR3","doi-asserted-by":"crossref","first-page":"954","DOI":"10.1136\/adc.2009.179747","volume":"96","author":"DV Bishop","year":"2011","unstructured":"Bishop DV, Jacobs PA, Lachlan K, Wellesley D, Barnicoat A, Boyd PA, Fryer A, Middlemiss P, Smithson S, Metcalfe K, Shears D, Leggett V, Nation K, Scerif G (2011) Autism, language and communication in children with sex chromosome trisomies. Arch Dis Child 96:954\u2013959","journal-title":"Arch Dis Child"},{"issue":"10","key":"2267_CR4","doi-asserted-by":"crossref","first-page":"1082","DOI":"10.1111\/j.1469-7610.2012.02610.x","volume":"53","author":"DV Bishop","year":"2012","unstructured":"Bishop DV (2012) Commentary: unravelling the effects of additional sex chromosomes on cognition and communication\u2014reflections on Lee et al. Journal of Child Psychology and Psychiatry 53(10):1082\u20131083","journal-title":"Journal of Child Psychology and Psychiatry"},{"key":"2267_CR5","doi-asserted-by":"crossref","first-page":"1149","DOI":"10.1111\/j.1469-8749.2012.04418.x","volume":"54","author":"DM Bryant","year":"2012","unstructured":"Bryant DM, Hoeft F, Lai S, Lackey J, Roeltgen D, Ross J, Reiss AL (2012) Sex chromosomes and the brain: a study of neuroanatomy in XYY syndrome. Dev Med Child Neurol 54:1149\u20131156","journal-title":"Dev Med Child Neurol"},{"key":"2267_CR6","doi-asserted-by":"crossref","first-page":"562","DOI":"10.1177\/0009922810380453","volume":"50","author":"L Cashion","year":"2011","unstructured":"Cashion L, Van Roden A (2011) Asperger's disorder in an adolescent with 47, XYY chromosomal syndrome. Clin Pediatr 50:562\u2013566","journal-title":"Clin Pediatr"},{"key":"2267_CR7","doi-asserted-by":"crossref","first-page":"1254","DOI":"10.1016\/j.ridd.2012.02.013","volume":"33","author":"L Cordeiro","year":"2012","unstructured":"Cordeiro L, Tartaglia N, Roeltgen D, Ross J (2012) Social deficits in male children and adolescents with sex chromosome aneuploidy: a comparison of XXY, XYY, and XXYY syndromes. Res Dev Disabil 33:1254\u20131263","journal-title":"Res Dev Disabil"},{"key":"2267_CR8","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1002\/ajmg.b.30229","volume":"141B","author":"CM Durand","year":"2006","unstructured":"Durand CM, Kappeler C, Betancur C, Delorme R, Quach H, Goubran-Botros H, Melke J, Nygren G, Chabane N, Bellivier F, Szoke A, Schurhoff F, Rastam M, Anckars\u00e4ter H, Gillberg C, Leboyer M, Bourgeron T (2006) Expression and genetic variability of PCDH11Y, a gene specific to Homo sapiens and candidate for susceptibility to psychiatric disorders. Am J Med Genet Part B: Neuropsychiatric Genetics 141B:67\u201370","journal-title":"Am J Med Genet Part B: Neuropsychiatric Genetics"},{"key":"2267_CR9","first-page":"267","volume":"14","author":"M Geerts","year":"2003","unstructured":"Geerts M, Steyaert J, Fryns JP (2003) The XYY syndrome: a follow-up study on 38 boys. Genet Couns 14:267\u2013279","journal-title":"Genet Couns"},{"key":"2267_CR10","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1016\/S0270-3092(84)80056-9","volume":"5","author":"C Gillberg","year":"1984","unstructured":"Gillberg C, Winnerg\u00e5rd I, Wahlstr\u00f6m J (1984) The sex chromosomes\u2014one key to autism? An XYY case of infantile autism. Appl Res Ment Retard 5:353\u2013360","journal-title":"Appl Res Ment Retard"},{"issue":"2","key":"2267_CR11","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1038\/sj.mp.4000968","volume":"7","author":"S Jamain","year":"2002","unstructured":"Jamain S, Quach H, Quintana-Murci L, Betancur C, Philippe A, Gillberg C, Sponheim E, Skjeldal OH, Fellous M, Leboyer M, Bourgeron T (2002) Y chromosome haplogroups in autistic subjects. Mol Psychiatry 7(2):217\u2013219","journal-title":"Mol Psychiatry"},{"key":"2267_CR12","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1590\/S0004-282X2009000400032","volume":"67","author":"E Kuczynski","year":"2009","unstructured":"Kuczynski E, Bertola DR, Castro CI, Koiffmann CP, Kim CA (2009) Infantile autism and 47, XYY karyotype. Arq Neuropsiquiatr 67:717\u2013718","journal-title":"Arq Neuropsiquiatr"},{"key":"2267_CR13","first-page":"38","volume":"3","author":"F Lalatta","year":"2012","unstructured":"Lalatta F, Folliero E, Cavallari U, Di Segni M, Gentilin B, Fogliani R, Quagliarini D, Vizziello P, Monti F, Gargantini L (2012) Early manifestations in a cohort of children prenatally diagnosed with 47, XYY. Role of multidisciplinary counseling for parental guidance and prevention of aggressive behavior. Ital J Pediatr 3:38\u201352","journal-title":"Ital J Pediatr"},{"key":"2267_CR14","doi-asserted-by":"crossref","first-page":"1072","DOI":"10.1111\/j.1469-7610.2012.02573.x","volume":"53","author":"NR Lee","year":"2012","unstructured":"Lee NR, Wallace GL, Adeyemi EI, Lopez KC, Blumenthal JD, Clasen LS, Giedd JN (2012) Dosage effects of X and Y chromosomes on language and social functioning in children with supernumerary sex chromosome aneuploidies: implications for idiopathic language impairment and autism spectrum disorders. Journal of Child Psychology and Psychiatry 53:1072\u20131081","journal-title":"Journal of Child Psychology and Psychiatry"},{"key":"2267_CR15","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1111\/j.1469-8749.2009.03545.x","volume":"52","author":"V Leggett","year":"2012","unstructured":"Leggett V, Jacobs P, Nation K, Scerif G, Bishop DV (2012) Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: a systematic review. Dev Med Child Neurol 52:119\u2013129","journal-title":"Dev Med Child Neurol"},{"key":"2267_CR16","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1007\/978-1-61779-507-7_5","volume":"838","author":"CR Marshall","year":"2012","unstructured":"Marshall CR, Scherer SW (2012) Detection and characterization of copy number variation in autism spectrum disorder. Methods Mol Biol 838:115\u2013135","journal-title":"Methods Mol Biol"},{"key":"2267_CR17","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1177\/070674379804300611","volume":"43","author":"R Nicolson","year":"1998","unstructured":"Nicolson R, Bhalerao S, Sloman L (1998) 47, XYY karyotypes and pervasive developmental disorders. Can J Psychiatry 43:619\u2013622","journal-title":"Can J Psychiatry"},{"key":"2267_CR18","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1542\/peds.2011-0719","volume":"129","author":"JL Ross","year":"2012","unstructured":"Ross JL, Roeltgen DP, Kushner H, Zinn AR, Reiss A, Bardsley MZ, McCauley E, Tartaglia N (2012) Behavioral and social phenotypes in boys with 47, XYY syndrome or 47, XXY Klinefelter syndrome. Pediatrics 129:769\u2013778","journal-title":"Pediatrics"},{"key":"2267_CR19","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1002\/ddrr.85","volume":"15","author":"JL Ross","year":"2009","unstructured":"Ross JL, Zeger MP, Kushner H, Zinn AR, Roeltgen DP (2009) An extra X or Y chromosome: contrasting the cognitive and motor phenotypes in childhood in boys with 47, XYY syndrome or 47, XXY Klinefelter syndrome. Dev Disabil Res Rev 15:309\u2013317","journal-title":"Dev Disabil Res Rev"},{"issue":"10","key":"2267_CR20","doi-asserted-by":"crossref","first-page":"1258","DOI":"10.1177\/0883073809333530","volume":"24","author":"FJ Serajee","year":"2009","unstructured":"Serajee FJ, Mahbubul Huq AH (2009) Association of Y chromosome haplotypes with autism. J Child Neurol 24(10):1258\u20131261","journal-title":"J Child Neurol"},{"key":"2267_CR21","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1186\/1750-1172-5-15","volume":"5","author":"K Stochholm","year":"2010","unstructured":"Stochholm K, Juul S, Gravholt CH (2010) Diagnosis and mortality in 47, XYY persons: a registry study. Orphanet J Rare Dis 5:15","journal-title":"Orphanet J Rare Dis"},{"key":"2267_CR22","doi-asserted-by":"crossref","first-page":"2421","DOI":"10.1002\/ajmg.a.35539","volume":"158","author":"K Stochholm","year":"2012","unstructured":"Stochholm K, Juul S, Gravholt CH (2012) Socio-economic factors affect mortality in 47, XYY syndrome-A comparison with the background population and Klinefelter syndrome. Am J Med Genet A 158:2421\u20132429","journal-title":"Am J Med Genet A"},{"key":"2267_CR23","doi-asserted-by":"crossref","first-page":"e000650","DOI":"10.1136\/bmjopen-2011-000650","volume":"22","author":"K Stochholm","year":"2012","unstructured":"Stochholm K, Bojesen A, Jensen AS, Juul S, Gravholt CH (2012) Criminality in men with Klinefelter\u2019s syndrome and XYY syndrome: a cohort study. BMJ Open 22:e000650","journal-title":"BMJ Open"},{"key":"2267_CR24","doi-asserted-by":"crossref","first-page":"e21","DOI":"10.1136\/jmg.2005.036897","volume":"43","author":"Z Talebizadeh","year":"2006","unstructured":"Talebizadeh Z, Lam DY, Theodoro MF, Bittel DC, Lushington GH, Butler MG (2006) Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism. J Med Gen 43:e21","journal-title":"J Med Gen"},{"key":"2267_CR25","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1002\/ajmg.10714","volume":"112","author":"G Turner","year":"2002","unstructured":"Turner G, Partington M, Kerr B, Mangelsdorf M, Gecz J (2002) Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation. Am J Genet 112:405\u2013411","journal-title":"Am J Genet"},{"key":"2267_CR26","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1002\/ddrr.76","volume":"15","author":"J Visootsak","year":"2009","unstructured":"Visootsak J, Graham JM (2009) Social function in multiple X and Y chromosome disorders: XXY, XYY, XXYY, XXXY. Dev Disabil Res Rev 15:328\u2013332","journal-title":"Dev Disabil Res Rev"},{"key":"2267_CR27","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1046\/j.1365-2788.1998.00091.x","volume":"42","author":"E Weidmer-Mikhail","year":"1998","unstructured":"Weidmer-Mikhail E, Sheldon S, Ghaziuddin M (1998) Chromosomes in autism and related pervasive developmental disorders: a cytogenetic study. J Intellect Disabil Res 42:8\u201312","journal-title":"J Intellect Disabil Res"},{"key":"2267_CR28","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1097\/YPG.0b013e3282fb7fe6","volume":"18","author":"J Yan","year":"2008","unstructured":"Yan J, Feng J, Schroer R, Li W, Skinner C, Schwartz CE, Cook EH Jr, Sommer SS (2008) Analysis of the neuroligin 4Y gene in patients with autism. Psychiatr Genet 18:204\u2013207","journal-title":"Psychiatr Genet"},{"key":"2267_CR29","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.braindev.2006.09.003","volume":"29","author":"DI Zafeiriou","year":"2007","unstructured":"Zafeiriou DI, Ververi A, Vargiami E (2007) Childhood autism and associated comorbidities. Brain Dev 29:257\u2013272","journal-title":"Brain Dev"}],"container-title":["European Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-014-2267-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00431-014-2267-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-014-2267-9","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,1]],"date-time":"2025-05-01T17:03:49Z","timestamp":1746119029000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00431-014-2267-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,1,25]]},"references-count":29,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2014,3]]}},"alternative-id":["2267"],"URL":"https:\/\/doi.org\/10.1007\/s00431-014-2267-9","relation":{},"ISSN":["0340-6199","1432-1076"],"issn-type":[{"value":"0340-6199","type":"print"},{"value":"1432-1076","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,1,25]]}}}