{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T11:50:11Z","timestamp":1787226611685,"version":"build-2736575974"},"reference-count":15,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2013,3,13]],"date-time":"2013-03-13T00:00:00Z","timestamp":1363132800000},"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":[[2013,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>We report on a case of apparent germline mosaicism in a family of two sisters carrying a novel 19p13.13 deletion. The 11\u2010year\u2010old proposita was referred for evaluation of macrocephaly, moderate intellectual disability (ID), and episodic ataxia. Array comparative genomic hybridization (CGH) detected a 399\u2009kb microdeletion with breakpoints within genes <jats:italic>NFIX<\/jats:italic> and <jats:italic>CACNA1A<\/jats:italic>. A similar deletion was also seen in the elder sibling who presented with macrocephaly, ID, and strabismus. The deletions were confirmed to be de novo after the parental aCGH analysis suggesting that this is an example of germinal mosaicism. This study contributes additional information for the newly identified 19p13 deletion syndrome and clarifies the clinical roles of genes in the involved region. This case of apparent germline mosaicism represents the only known family in the cohort of 1,800 patients analyzed by our group. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35790","type":"journal-article","created":{"date-parts":[[2013,3,14]],"date-time":"2013-03-14T09:32:11Z","timestamp":1363253531000},"page":"1105-1109","source":"Crossref","is-referenced-by-count":35,"title":["Apparent Germline Mosaicism for a Novel 19p13.13 Deletion Disrupting <scp><i>NFIX<\/i><\/scp> and <i>CACNA1A<\/i>"],"prefix":"10.1002","volume":"161","author":[{"given":"Manjunath","family":"Nimmakayalu","sequence":"first","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics University of Iowa Hospitals and Clinics Iowa City, Iowa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V. Kim","family":"Horton","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics University of Iowa Hospitals and Clinics Iowa City, Iowa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ben","family":"Darbro","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics University of Iowa Hospitals and Clinics Iowa City, Iowa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shivanand R.","family":"Patil","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics University of Iowa Hospitals and Clinics Iowa City, Iowa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamza","family":"Alsayouf","sequence":"additional","affiliation":[{"name":"Mercy Medical Center Des Moines, Iowa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kim","family":"Keppler\u2010Noreuil","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics University of Iowa Hospitals and Clinics Iowa City, Iowa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oleg A.","family":"Shchelochkov","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics University of Iowa Hospitals and Clinics Iowa City, Iowa"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,3,13]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2009.02189.x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-213X-8-52"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181e59291"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.02293-06"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq963"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33733"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2008.07.030"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33056"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/350398a0"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-009-0208-y"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9149(89)90430-X"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1159\/000320920"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.55.7.1040"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2011.00051"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00424-009-0772-x"}],"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.35790","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35790","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T01:31:13Z","timestamp":1698629473000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35790"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,3,13]]},"references-count":15,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2013,5]]}},"alternative-id":["10.1002\/ajmg.a.35790"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35790","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,3,13]]}}}