{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,19]],"date-time":"2023-10-19T04:28:44Z","timestamp":1697689724056},"reference-count":20,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2011,11,3]],"date-time":"2011-11-03T00:00:00Z","timestamp":1320278400000},"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":[[2011,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Proximal duplications of the long arm of chromosome 16 are rare and only a few patients have been reported. Clinically, the patients do not have a distinctive syndromic appearance; however they all show some degree of intellectual disability and most have severely delayed speech development. We report on a child presenting with mild\u2010to\u2010moderate intellectual disability, microcephaly, language dyspraxia, and mild dysmorphisms who was found to have a mosaic gain of chromosome 16q (16q11.2\u201316q12.1). Magnetic resonance imaging done at the age of 4 years demonstrated cerebellar cortical dysplasia involving the vermis and hemispheres. This is the first report of cerebellar anomalies in a patient with partial trisomy 16q. The genes <jats:italic>ZNF423<\/jats:italic> and <jats:italic>CBLN1<\/jats:italic> found in the duplicated region play a role in the development of the cerebellum and may be responsible for the cerebellar cortical dysplasia. \u00a9 2011 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34316","type":"journal-article","created":{"date-parts":[[2011,11,3]],"date-time":"2011-11-03T21:11:32Z","timestamp":1320354692000},"page":"2991-2996","source":"Crossref","is-referenced-by-count":6,"title":["Mosaic marker chromosome 16 resulting in 16q11.2\u2013q12.1 gain in a child with intellectual disability, microcephaly, and cerebellar cortical dysplasia"],"prefix":"10.1002","volume":"155","author":[{"given":"Ayelet","family":"Zerem","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chana","family":"Vinkler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina","family":"Michelson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Esther","family":"Leshinsky\u2010Silver","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tally","family":"Lerman\u2010Sagie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorit","family":"Lev","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,11,3]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0609184103"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01094.x"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2007.04.005"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00234-002-0783-1"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.102"},{"key":"e_1_2_6_7_1","first-page":"101","article-title":"Characterization of a partial trisomy 16q with FISH","volume":"42","author":"Engelen JJ","year":"1999","journal-title":"Ann Genet"},{"key":"e_1_2_6_8_1","first-page":"46","article-title":"Direct duplication 16q11.1\u201316q13 is not associated with a typical dysmorphic syndrome","volume":"33","author":"Fryns JP","year":"1990","journal-title":"Ann Genet"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273489"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33434"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.1030-08.2008"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01531709"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320380110"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1159\/000227834"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1988.tb01100.x"},{"key":"e_1_2_6_16_1","first-page":"1074","article-title":"Analysis and classification of cerebellar malformations","volume":"23","author":"Patel S","year":"2002","journal-title":"Am J Neuroradiol"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190312"},{"key":"e_1_2_6_18_1","first-page":"1511","article-title":"Cerebellar cortical dysplasia: MR findings in a complex entity","volume":"21","author":"Soto\u2010Ares G","year":"2000","journal-title":"AJNR Am J Neuroradiol"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.85.9.3396"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8166-2-17"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1396"}],"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.34316","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.34316","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T14:13:21Z","timestamp":1697638401000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.34316"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,11,3]]},"references-count":20,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2011,12]]}},"alternative-id":["10.1002\/ajmg.a.34316"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.34316","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,11,3]]}}}