{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T14:54:16Z","timestamp":1777906456179,"version":"3.51.4"},"reference-count":34,"publisher":"Wiley","issue":"13","license":[{"start":{"date-parts":[[2009,8,24]],"date-time":"2009-08-24T00:00:00Z","timestamp":1251072000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100001005","name":"Bonfils-Stanton Foundation","doi-asserted-by":"crossref","award":["K23 NS052487"],"award-info":[{"award-number":["K23 NS052487"]}],"id":[{"id":"10.13039\/100001005","id-type":"DOI","asserted-by":"crossref"}]},{"name":"UC-Davis M.I.N.D. Institute"},{"name":"University of Colorado CTRC"},{"name":"The Children's Hospital Research Institute"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2009,10,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The 48,XXYY syndrome is a form of sex chromosome aneuploidy presenting in 1:18,000 males. Tremor has been previously reported in 47,XXY and 47,XYY syndromes, but has not been well described in 48,XXYY syndrome. Ten males with 48,XXYY syndrome had a standardized neurological examination and videotaping, which included the Clinical Rating Scale for Tremor and the International Cooperative Ataxia Rating Scale. All 10 cases had postural and kinetic tremor on physical examination. Other findings included mild gait ataxia, dysarthria, and nystagmus. Three cases are reviewed. Tremor is a common finding in children and young adults with 48,XXYY syndrome. Dosage alteration of genes on the sex chromosomes may be involved in the pathogenesis of this tremor. Karyotyping should be considered in individuals presenting with tremor and a history of developmental delay, learning disabilities, tall stature, or microorchidism. \u00a9 2009 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.22700","type":"journal-article","created":{"date-parts":[[2009,8,24]],"date-time":"2009-08-24T16:50:37Z","timestamp":1251132637000},"page":"2001-2007","source":"Crossref","is-referenced-by-count":27,"title":["Tremor in 48,XXYY syndrome"],"prefix":"10.1002","volume":"24","author":[{"given":"Nicole","family":"Tartaglia","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariya","family":"Borodyanskya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deborah A.","family":"Hall","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,10,21]]},"reference":[{"key":"e_1_2_8_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32366"},{"issue":"42","key":"e_1_2_8_3_2","article-title":"Klinefelter syndrome and other sex chromosome aneuploidies","volume":"1","author":"Visootsak J","year":"2006","journal-title":"Orphanet J Rare Disease"},{"key":"e_1_2_8_4_2","first-page":"216","article-title":"48,XXYY syndrome in a boy with essential tremor. Comparison with 120 cases from the literature","volume":"140","author":"Donati F","year":"1992","journal-title":"Monatsschr Kinderheilkd"},{"key":"e_1_2_8_5_2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.222.4.446"},{"key":"e_1_2_8_6_2","first-page":"39","article-title":"Improvement of peripheral neuropathy by testosterone in a patient with 48,XXYY syndrome","volume":"25","author":"Izumi S","year":"2000","journal-title":"Tokai J Exp Clin Med"},{"key":"e_1_2_8_7_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00312978"},{"key":"e_1_2_8_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(69)90244-X"},{"key":"e_1_2_8_9_2","first-page":"169","article-title":"Neurological aspects of two patients with non\u2010mosaic and mosaic polysomy of the X and Y chromosomes","volume":"33","author":"Jakubowski L","year":"1999","journal-title":"Neurol Neurochir Pol"},{"key":"e_1_2_8_10_2","doi-asserted-by":"publisher","DOI":"10.3171\/jns.2000.93.1.0127"},{"key":"e_1_2_8_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm018"},{"key":"e_1_2_8_12_2","first-page":"225","volume-title":"Parkinson's disease and movement disorders","author":"Fahn S","year":"1998"},{"key":"e_1_2_8_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(96)00231-6"},{"key":"e_1_2_8_14_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.054676"},{"key":"e_1_2_8_15_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.24.7.655"},{"key":"e_1_2_8_16_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.1978.tb02861.x"},{"key":"e_1_2_8_17_2","first-page":"323","volume-title":"Management of Genetic Syndromes","author":"Simpson JL","year":"2005"},{"key":"e_1_2_8_18_2","doi-asserted-by":"publisher","DOI":"10.1038\/ncpuro0775"},{"key":"e_1_2_8_19_2","first-page":"267","article-title":"The XYY syndrome: a follow\u2010up study on 38 boys","volume":"14","author":"Geerts M","year":"2003","journal-title":"Genet Counsel"},{"key":"e_1_2_8_20_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.55.6.823"},{"key":"e_1_2_8_21_2","first-page":"437","volume-title":"Movement disorders","author":"Cersosimo M","year":"2004"},{"key":"e_1_2_8_22_2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2004-0031"},{"key":"e_1_2_8_23_2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2005-2969"},{"key":"e_1_2_8_24_2","first-page":"655","article-title":"Comparison of cerebellar anatomy in a pediatric XXY population to XY males with and without ADHD","volume":"51","author":"Lenroot RK","year":"2007","journal-title":"J Intellect Disabil Res"},{"key":"e_1_2_8_25_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.13.1991"},{"key":"e_1_2_8_26_2","doi-asserted-by":"publisher","DOI":"10.1002\/mrdd.20005"},{"key":"e_1_2_8_27_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31559"},{"key":"e_1_2_8_28_2","first-page":"19","article-title":"Faststart high fidelity PCR system simplifies study of epigenetics and DNA methylation","volume":"2","author":"Paduch D","year":"2005","journal-title":"Biochemica"},{"key":"e_1_2_8_29_2","doi-asserted-by":"publisher","DOI":"10.1002\/j.1939-4640.2003.tb03128.x"},{"key":"e_1_2_8_30_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22033"},{"key":"e_1_2_8_31_2","doi-asserted-by":"publisher","DOI":"10.3346\/jkms.2008.23.2.328"},{"key":"e_1_2_8_32_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000230133.11951.75"},{"key":"e_1_2_8_33_2","doi-asserted-by":"publisher","DOI":"10.1086\/511134"},{"key":"e_1_2_8_34_2","doi-asserted-by":"publisher","DOI":"10.1038\/352077a0"},{"key":"e_1_2_8_35_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199704)17:4<363::AID-PD79>3.0.CO;2-O"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.22700","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.22700","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.22700","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T11:28:43Z","timestamp":1760959723000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.22700"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,10,15]]},"references-count":34,"journal-issue":{"issue":"13","published-print":{"date-parts":[[2009,10,15]]}},"alternative-id":["10.1002\/mds.22700"],"URL":"https:\/\/doi.org\/10.1002\/mds.22700","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,10,15]]}}}