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While often compared with 47,XXY\/Klinefelter syndrome because of shared features including tall stature and hypergonadotropic hypogonadism, 48,XXYY, 48,XXXY and 49,XXXXY syndromes are associated with additional physical findings, congenital malformations, medical problems and psychological features. While the spectrum of cognitive abilities extends much higher than originally described, developmental delays, cognitive impairments and behavioural disorders are common and require strong treatment plans. Future research should focus on genotype\u2013phenotype relationships and the development of evidence\u2010based treatments.<\/jats:p><jats:p><jats:bold>Conclusion:\u2002<\/jats:bold> The more complex physical, medical and psychological phenotypes of 48,XXYY, 48,XXXY and 49,XXXXY syndromes make distinction from 47,XXY important; however, all of these conditions share features of hypergonadotropic hypogonadism and the need for increased awareness, biomedical research and the development of evidence\u2010based treatments.<\/jats:p>","DOI":"10.1111\/j.1651-2227.2011.02235.x","type":"journal-article","created":{"date-parts":[[2011,2,23]],"date-time":"2011-02-23T15:17:36Z","timestamp":1298474256000},"page":"851-860","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":167,"title":["48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome"],"prefix":"10.1111","volume":"100","author":[{"given":"Nicole","family":"Tartaglia","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie","family":"Ayari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Howell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheryl","family":"D\u2019Epagnier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip","family":"Zeitler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,4,8]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.5.420"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32366"},{"key":"e_1_2_7_4_2","first-page":"197","article-title":"The 48,XXYY syndrome","volume":"22","author":"Sorensen K","year":"1978","journal-title":"J Ment Defic Res"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00451449"},{"key":"e_1_2_7_6_2","first-page":"169","article-title":"A cytogenetic survey of 14,069 newborn infants. 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