{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,5]],"date-time":"2026-11-05T04:13:55Z","timestamp":1793852035130,"version":"4.6.1"},"reference-count":49,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2013,10,1]],"date-time":"2013-10-01T00:00:00Z","timestamp":1380585600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,10,1]],"date-time":"2013-10-01T00:00:00Z","timestamp":1380585600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jpeds.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Pediatrics"],"published-print":{"date-parts":[[2013,10]]},"DOI":"10.1016\/j.jpeds.2013.05.037","type":"journal-article","created":{"date-parts":[[2013,6,27]],"date-time":"2013-06-27T05:46:29Z","timestamp":1372311989000},"page":"1085-1094","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":173,"title":["47,XYY Syndrome: Clinical Phenotype and Timing of Ascertainment"],"prefix":"10.1016","volume":"163","author":[{"given":"Martha Zeger","family":"Bardsley","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Kowal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carly","family":"Levy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ania","family":"Gosek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie","family":"Ayari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Tartaglia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Najiba","family":"Lahlou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Breanna","family":"Winder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shannon","family":"Grimes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith L.","family":"Ross","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jpeds.2013.05.037_bib1","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1136\/adc.80.2.192","article-title":"Long-term outcome in children of sex chromosome abnormalities","volume":"80","author":"Ratcliffe","year":"1999","journal-title":"Arch Dis Child"},{"key":"10.1016\/j.jpeds.2013.05.037_bib2","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1002\/(SICI)1097-0223(199704)17:4<363::AID-PD79>3.0.CO;2-O","article-title":"47,XXY (Klinefelter syndrome) and 47,XYY: estimated rates of and indication for postnatal diagnosis with implications for prenatal counselling","volume":"17","author":"Abramsky","year":"1997","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.jpeds.2013.05.037_bib3","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1126\/science.179.4069.139","article-title":"Behavioral implications of the human XYY genotype","volume":"179","author":"Hook","year":"1973","journal-title":"Science"},{"key":"10.1016\/j.jpeds.2013.05.037_bib4","first-page":"267","article-title":"The XYY syndrome: a follow-up study on 38 boys","volume":"14","author":"Geerts","year":"2003","journal-title":"Genet Couns"},{"key":"10.1016\/j.jpeds.2013.05.037_bib5","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1017\/S001216220500109X","article-title":"Stimulant medication in 47,XYY syndrome: a report of two cases","volume":"47","author":"Ruud","year":"2005","journal-title":"Dev Med Child Neurol"},{"key":"10.1016\/j.jpeds.2013.05.037_bib6","series-title":"Growth and development of children with a 47,XYY karyotype","author":"Robinson","year":"1985"},{"key":"10.1016\/j.jpeds.2013.05.037_bib7","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1007\/BF01213097","article-title":"Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark","volume":"87","author":"Nielsen","year":"1991","journal-title":"Hum Genet"},{"key":"10.1016\/j.jpeds.2013.05.037_bib8","doi-asserted-by":"crossref","unstructured":"Linden MG, Bender BG. Fifty-one prenatally diagnosed children and adolescents with sex chromosome abnormalities. Am J Med Genet 2002;110:11-8.","DOI":"10.1002\/ajmg.10394"},{"key":"10.1016\/j.jpeds.2013.05.037_bib9","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1001\/archpsyc.1984.01790120097012","article-title":"Sex chromosome anomalies, hormones, and aggressivity","volume":"41","author":"Schiavi","year":"1984","journal-title":"Arch Gen Psychiatry"},{"key":"10.1016\/j.jpeds.2013.05.037_bib10","first-page":"45","article-title":"Cognitive and behavioral factors in the learning disabilities of 47,XXY and 47,XYY boys","volume":"26","author":"Walzer","year":"1990","journal-title":"Birth Defects Orig Artic Ser"},{"key":"10.1016\/j.jpeds.2013.05.037_bib11","first-page":"197","article-title":"XYY syndrome and other Y chromosome polysomies. Mental status and psychosocial functioning","volume":"6","author":"Fryns","year":"1995","journal-title":"Genet Couns"},{"key":"10.1016\/j.jpeds.2013.05.037_bib12","first-page":"293","article-title":"Summary overview of behavioural development in individuals with neonatally identified X and Y aneuploidy","volume":"22","author":"Netley","year":"1986","journal-title":"Birth Defects Orig Artic Ser"},{"key":"10.1016\/j.jpeds.2013.05.037_bib13","doi-asserted-by":"crossref","first-page":"954","DOI":"10.1136\/adc.2009.179747","article-title":"Autism, language and communication in children with sex chromosome trisomies","volume":"96","author":"Bishop","year":"2010","journal-title":"Arch Dis Child"},{"key":"10.1016\/j.jpeds.2013.05.037_bib14","first-page":"404","article-title":"The frequency of chromosome aberrations in tall men with special reference to 47, XYY and 47, XXY","volume":"28","author":"Philip","year":"1976","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jpeds.2013.05.037_bib15","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1192\/bjp.123.2.219","article-title":"Psychological studies of ten patients with the XYY syndrome","volume":"123","author":"Christensen","year":"1973","journal-title":"Br J Psychiatry"},{"key":"10.1016\/j.jpeds.2013.05.037_bib16","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1111\/j.1399-0004.1984.tb02013.x","article-title":"The development of four unselected 47,XYY boys","volume":"25","author":"Bender","year":"1984","journal-title":"Clin Genet"},{"key":"10.1016\/j.jpeds.2013.05.037_bib17","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1542\/peds.80.2.240","article-title":"Gross and fine motor development in 47,XXY and 47,XYY males","volume":"80","author":"Salbenblatt","year":"1987","journal-title":"Pediatrics"},{"key":"10.1016\/j.jpeds.2013.05.037_bib18","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1530\/EJE-07-0709","article-title":"Increased basal and pulsatile secretion of FSH and LH in young men with 47,XXY or 46,XX karyotypes","volume":"158","author":"Aksglaede","year":"2008","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.jpeds.2013.05.037_bib19","doi-asserted-by":"crossref","first-page":"1144","DOI":"10.1016\/S0140-6736(68)91622-X","article-title":"XYY with abnormal genitalia","volume":"2","author":"Carakushansky","year":"1968","journal-title":"Lancet"},{"key":"10.1016\/j.jpeds.2013.05.037_bib20","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1007\/s00439-007-0365-8","article-title":"Mortality and cancer incidence in males with Y polysomy in Britain: a cohort study","volume":"121","author":"Higgins","year":"2007","journal-title":"Hum Genet"},{"key":"10.1016\/j.jpeds.2013.05.037_bib21","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1177\/070674379804300611","article-title":"47,XYY karyotypes and pervasive developmental disorders","volume":"43","author":"Nicolson","year":"1998","journal-title":"Can J Psychiatry"},{"key":"10.1016\/j.jpeds.2013.05.037_bib22","doi-asserted-by":"crossref","first-page":"1254","DOI":"10.1016\/j.ridd.2012.02.013","article-title":"Social deficits in male children and adolescents with sex chromosome aneuploidy: a comparison of XXY, XYY, and XXYY syndromes","volume":"33","author":"Cordeiro","year":"2012","journal-title":"Res Dev Disabil"},{"key":"10.1016\/j.jpeds.2013.05.037_bib23","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1542\/peds.2011-0719","article-title":"Behavioral and social phenotypes in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome","volume":"129","author":"Ross","year":"2012","journal-title":"Pediatrics"},{"key":"10.1016\/j.jpeds.2013.05.037_bib24","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1093\/ajcn\/32.3.607","article-title":"Physical growth: National Center for Health Statistics percentiles","volume":"32","author":"Hamill","year":"1979","journal-title":"Am J Clin Nutr"},{"key":"10.1016\/j.jpeds.2013.05.037_bib25","series-title":"Handbook of normal physical measurements","author":"Hall","year":"1995"},{"key":"10.1016\/j.jpeds.2013.05.037_bib26","series-title":"Differential ability scales-introductory and technical handbook","author":"Elliott","year":"1983"},{"key":"10.1016\/j.jpeds.2013.05.037_bib27","series-title":"Wechsler Intelligence Scale for Children\u2013Fourth edition. Administration and scoring manual","author":"Wechsler","year":"2003"},{"key":"10.1016\/j.jpeds.2013.05.037_bib28","series-title":"Mullen scales of early learning","author":"Mullen","year":"1989"},{"key":"10.1016\/j.jpeds.2013.05.037_bib29","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1037\/0022-006X.47.2.223","article-title":"The child behavior profile: II boys age 12-16 and girls ages 6-11 and 12-16","volume":"47","author":"Achenbach","year":"1979","journal-title":"J Consulting Clin Psychol"},{"key":"10.1016\/j.jpeds.2013.05.037_bib30","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1007\/BF00919131","article-title":"What I think and feel: a revised measure of children's manifest anxiety","volume":"6","author":"Reynolds","year":"1978","journal-title":"J Abn Child Psychol"},{"key":"10.1016\/j.jpeds.2013.05.037_bib31","series-title":"CDI Children's depression inventory technical manual update","author":"Kovacs","year":"2003"},{"key":"10.1016\/j.jpeds.2013.05.037_bib32","series-title":"The Social Communication Questionnaire manual","author":"Rutter","year":"2003"},{"key":"10.1016\/j.jpeds.2013.05.037_bib33","series-title":"Social Responsiveness Scale (SRS)","author":"Constantino","year":"2005"},{"key":"10.1016\/j.jpeds.2013.05.037_bib34","series-title":"ADI-R Autism Diagnostic Interview Revised WPS Manual","author":"Rutter","year":"2008"},{"key":"10.1016\/j.jpeds.2013.05.037_bib35","series-title":"Social class and mental illness","author":"Hollingshead","year":"1958"},{"key":"10.1016\/j.jpeds.2013.05.037_bib36","doi-asserted-by":"crossref","first-page":"3041","DOI":"10.1210\/jc.2005-2564","article-title":"Activating mutations in the luteinizing hormone receptor gene: a human model of non-follicle-stimulating hormone-dependent inhibin production and germ cell maturation","volume":"91","author":"Soriano-Guillen","year":"2006","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.jpeds.2013.05.037_bib37","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1007\/BF01658863","article-title":"Current concepts in inguinal hernia in infants and children","volume":"13","author":"Grosfeld","year":"1989","journal-title":"World J Surg"},{"key":"10.1016\/j.jpeds.2013.05.037_bib38","first-page":"547","article-title":"Vital signs: asthma prevalence, disease characteristics, and self-management education: United States, 2001\u20132009","volume":"60","author":"Centers for Disease Control and Prevention","year":"2011","journal-title":"MMWR"},{"key":"10.1016\/j.jpeds.2013.05.037_bib39","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1186\/1824-7288-38-52","article-title":"Early manifestations in a cohort of children prenatally diagnosed with 47,XYY. Role of multidisciplinary counseling for parental guidance and prevention of aggressive behavior","volume":"38","author":"Lalatta","year":"2012","journal-title":"Ital J Pediatr"},{"key":"10.1016\/j.jpeds.2013.05.037_bib40","doi-asserted-by":"crossref","first-page":"1206","DOI":"10.1002\/ajmg.a.33334","article-title":"Increased number of sex chromosomes affects height in a nonlinear fashion: a study of 305 patients with sex chromosome aneuploidy","volume":"152A","author":"Ottesen","year":"2010","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.jpeds.2013.05.037_bib41","unstructured":"Weiss ST. Epidemiology and natural history. In: Bronchial asthma mechanisms and therapeutics. 3rd ed. Boston: Little, Brown;\u00a01993."},{"key":"10.1016\/j.jpeds.2013.05.037_bib42","doi-asserted-by":"crossref","first-page":"1149","DOI":"10.1111\/j.1469-8749.2012.04418.x","article-title":"Sex chromosomes and the brain: a study of neuroanatomy in XYY syndrome","volume":"54","author":"Bryant","year":"2010","journal-title":"Dev Med Child Neurol"},{"key":"10.1016\/j.jpeds.2013.05.037_bib43","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1136\/jmg.5.4.286","article-title":"Testosterone excretion rates in normal males and males with an XYY complement","volume":"5","author":"Rudd","year":"1968","journal-title":"J Med Genet"},{"key":"10.1016\/j.jpeds.2013.05.037_bib44","unstructured":"Benezech M, Noel B. Hormonal and Biochemical Abnormalities in XYY Males. The Y chromosome, part B: clinical aspects of Y chromosome abnormalities. 1985. p. 301-22."},{"key":"10.1016\/j.jpeds.2013.05.037_bib45","doi-asserted-by":"crossref","first-page":"1638","DOI":"10.1093\/oxfordjournals.humrep.a019461","article-title":"Constitution of semen samples from XYY and XXY males as analysed by in situ hybridization","volume":"11","author":"Martini","year":"1996","journal-title":"Hum Reprod"},{"key":"10.1016\/j.jpeds.2013.05.037_bib46","doi-asserted-by":"crossref","first-page":"1749","DOI":"10.1093\/humrep\/del051","article-title":"Chromosome constitution and apoptosis of immature germ cells present in sperm of two 47,XYY infertile males","volume":"21","author":"Milazzo","year":"2006","journal-title":"Hum Reprod"},{"key":"10.1016\/j.jpeds.2013.05.037_bib47","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1111\/j.1439-0272.2007.00791.x","article-title":"Sperm ultrastructure and meiotic segregation in an infertile 47, XYY man","volume":"39","author":"Moretti","year":"2007","journal-title":"Andrologia"},{"key":"10.1016\/j.jpeds.2013.05.037_bib48","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1399-0004.1980.tb01356.x","article-title":"Fetal gonadal histology in XXXXY, XYY and XXX syndromes","volume":"18","author":"Autio-Harmainen","year":"1980","journal-title":"Clin Genet"},{"key":"10.1016\/j.jpeds.2013.05.037_bib49","doi-asserted-by":"crossref","first-page":"762","DOI":"10.1210\/jc.2006-1981","article-title":"Molecular and clinical characterization of Y chromosome microdeletions in infertile men: a 10-year experience in Italy","volume":"92","author":"Ferlin","year":"2007","journal-title":"J Clin Endocrinol Metab"}],"container-title":["The Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022347613005866?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022347613005866?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T08:55:50Z","timestamp":1758358550000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022347613005866"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,10]]},"references-count":49,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2013,10]]}},"alternative-id":["S0022347613005866"],"URL":"https:\/\/doi.org\/10.1016\/j.jpeds.2013.05.037","relation":{},"ISSN":["0022-3476"],"issn-type":[{"value":"0022-3476","type":"print"}],"subject":[],"published":{"date-parts":[[2013,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"47,XYY Syndrome: Clinical Phenotype and Timing of Ascertainment","name":"articletitle","label":"Article Title"},{"value":"The Journal of Pediatrics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jpeds.2013.05.037","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 Mosby, Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}