{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:04:50Z","timestamp":1761717890400},"reference-count":17,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2002,12,19]],"date-time":"2002-12-19T00:00:00Z","timestamp":1040256000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2003,1,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The 18q\u2010 syndrome [MIM #601808] is a terminal deletion of the long arm of chromosome 18. The most common deletion extends from region q21 to qter. We report here a nine\u2010year\u2010old boy possessing a simple 18q\u2010 deletion who had abnormalities of the brain, skull, face, tooth, hair, bone, and skin, plus joint laxity, tongue palsy, subtle sensoneural deafness, mental and speech delay, attention deficit hyperactivity disorder (ADHD), tic, and restless legs syndromes. His karyotype was 46, XY, del (18)(q21.31\u2212qter). The size of the deletion was approximately 45 cM. Most of these abnormalities were not explained by the 18q\u2010 deletion. The family pedigree suggested the presence of a subtle involvement of ectodermal and\/or mesodermal structures. Karyotypes of the other family members were normal. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.10069","type":"journal-article","created":{"date-parts":[[2002,12,20]],"date-time":"2002-12-20T14:07:23Z","timestamp":1040393243000},"page":"192-199","source":"Crossref","is-referenced-by-count":10,"title":["18q\u2010 syndrome and ectodermal dysplasia syndrome: Description of a child and his family"],"prefix":"10.1002","volume":"116A","author":[{"given":"R.","family":"Zannolli","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Pierluigi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Pucci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Lagrasta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O.","family":"Gasparre","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.R.","family":"Matera","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.M.","family":"Di Bartolo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.A.","family":"Mazzei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Sacco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Miracco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.M.","family":"de Santi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Aitiani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Cavani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Pellegrini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Fimiani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Alessandrini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Galluzzi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W.","family":"Livi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Gonnelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Terrosi\u2010Vagnoli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Zappella","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Morgese","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,12,19]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(87)90263-7"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.85.12.4450"},{"key":"e_1_2_7_4_1","first-page":"100","article-title":"IgA and partial deletions of chromosome 18","volume":"1","author":"Hecht F","year":"1969","journal-title":"Lancet"},{"key":"e_1_2_7_5_1","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1093\/clinchem\/45.7.1009","article-title":"Use of bone alkaline phosphatase to monitor alendronate therapy in individual postmenopausal osteoporotic women","volume":"45","author":"Kress BC","year":"1999","journal-title":"Clin Chem"},{"key":"e_1_2_7_6_1","first-page":"157","volume-title":"Human cytogenetics: a practical approach","author":"Lichter P","year":"1992"},{"key":"e_1_2_7_7_1","first-page":"1843","article-title":"White matter changes associated with deletions of the long arm of chromosome 18 (18q\u2010 syndrome): a dysmyelinating disorder?","volume":"17","author":"Loevner LA","year":"1996","journal-title":"AJNR Am J Neuroradiol"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960409)67:2<172::AID-AJMG7>3.0.CO;2-U"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.98.4.1665"},{"key":"e_1_2_7_10_1","unstructured":"Online Mendelian Inheritance in Man (OMIM):http:\/\/www.ncbi.nlm.nih.gov\/Omim\/.Chromosome 18q\u2010 deletion syndrome MIM #601808. Center for Medical Genetics Johns Hopkins University Baltimore MD and the National Center for Biotechnology Information National Library of Medicine Bethesda MD."},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320530207"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/1520-6300(200011\/12)12:6<782::AID-AJHB6>3.0.CO;2-L"},{"key":"e_1_2_7_13_1","first-page":"604","volume-title":"Catalogue of unbalanced chromosome aberrations in man","author":"Schinzel A","year":"1984"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1506"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320590414"},{"key":"e_1_2_7_16_1","first-page":"127","article-title":"Fast fluid\u2010attenuated inversion recovery (FAST\u2010FLAIR) of ischemic lesions in the brain: comparison with T2\u2010weighted turbo SE","volume":"14","author":"Taoka T","year":"1996","journal-title":"Radiat Med"},{"key":"e_1_2_7_17_1","first-page":"1021","article-title":"Fluid\u2010attenuated inversion recovery intraarterial signal: an early sign of hyperacute cerebral ischemia","volume":"22","author":"Toyoda K","year":"2001","journal-title":"AJNR Am J Neuroradiol"},{"key":"e_1_2_7_18_1","first-page":"299","article-title":"Ectodermal dysplasia syndrome with mental deficiency, joint laxity, nystagmus, cerebellar ataxia, periventricular nodular heterotopia, osteopenia and hyperglycinuria","volume":"69","author":"Zannolli R","year":"2001","journal-title":"Am J Hum Genet"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.10069","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.10069","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T21:37:07Z","timestamp":1700170627000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.10069"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,12,19]]},"references-count":17,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2003,1,15]]}},"alternative-id":["10.1002\/ajmg.a.10069"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.10069","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,12,19]]}}}