{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T20:38:20Z","timestamp":1761597500402,"version":"3.37.3"},"reference-count":17,"publisher":"Wiley","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"funder":[{"DOI":"10.13039\/501100004709","name":"Excellent Scholarship Program of the Bureau of Planning and International Cooperation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100004709","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100004708","name":"Ministry of National Education, Government of Indonesia","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100004708","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Radboud University Medical Centre"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:p>We present a 20-year-old female patient from Indonesia with intellectual disability (ID), proportionate short stature, motor delay, feeding problems, microcephaly, facial dysmorphism, and precocious puberty who was previously screened normal for conventional karyotyping, fragile X testing, and subtelomeric MLPA analysis. Subsequent genome wide array analysis was performed on DNA from blood and revealed a 1.1\u2009Mb deletion in 14q32.2q32.31 (chr14:100,388,343-101,506,214; hg19). Subsequent carrier testing in the parents by array showed that the deletion had occurred<jats:italic>de novo<\/jats:italic>in the patient and that her paternal 14q32 allele was deleted. The deleted region encompasses the<jats:italic>DLK1\/GTL2<\/jats:italic>imprinted gene cluster which is consistent with the maternal UPD(14)-like phenotype of the patient. This rare, recurrent microdeletion was recently shown not to be mediated by low copy repeats, but by expanded TGG repeats, flanking the 14q32.2q32.21 deletion boundaries, a novel mechanism of recurrent genomic rearrangement. This is another example how the application of high resolution genome wide testing provides an accurate genetic diagnosis, thereby improving the care for patients and optimizing the counselling for family.<\/jats:p>","DOI":"10.1155\/2014\/530134","type":"journal-article","created":{"date-parts":[[2014,3,30]],"date-time":"2014-03-30T21:04:05Z","timestamp":1396213445000},"page":"1-5","source":"Crossref","is-referenced-by-count":6,"title":["A Rare, Recurrent,<i>De Novo<\/i>14q32.2q32.31 Microdeletion of 1.1\u2009Mb in a 20-Year-Old Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual Disability"],"prefix":"10.1155","volume":"2014","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1455-6857","authenticated-orcid":true,"given":"Almira","family":"Zada","sequence":"first","affiliation":[{"name":"Department of Human Genetics, Radboud University Medical Center, The Netherlands Division of Human Genetics, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands"},{"name":"Center for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University, GSG 2nd Floor, Jl. Dr. Sutomo 14, Semarang 50244, Indonesia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Farmaditya E. P.","family":"Mundhofir","sequence":"additional","affiliation":[{"name":"Center for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University, GSG 2nd Floor, Jl. Dr. Sutomo 14, Semarang 50244, Indonesia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0584-4398","authenticated-orcid":true,"given":"Rolph","family":"Pfundt","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Radboud University Medical Center, The Netherlands Division of Human Genetics, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1003-2861","authenticated-orcid":true,"given":"Nico","family":"Leijsten","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Radboud University Medical Center, The Netherlands Division of Human Genetics, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Willy","family":"Nillesen","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Radboud University Medical Center, The Netherlands Division of Human Genetics, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sultana M. H.","family":"Faradz","sequence":"additional","affiliation":[{"name":"Center for Biomedical Research (CEBIOR), Faculty of Medicine, Diponegoro University, GSG 2nd Floor, Jl. Dr. Sutomo 14, Semarang 50244, Indonesia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9796-3342","authenticated-orcid":true,"given":"Nicole","family":"de Leeuw","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Radboud University Medical Center, The Netherlands Division of Human Genetics, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq075"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20771"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2007.56"},{"issue":"2","key":"4","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1002\/ajmg.1320060207","volume":"6","year":"1980","journal-title":"American Journal of Medical Genetics"},{"key":"5","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1002\/1096-8628(20000828)93:5<381::AID-AJMG7>3.0.CO;2-9","volume":"93","year":"2000","journal-title":"American Journal of Medical Genetics"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31414"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.90"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201977"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01116.x"},{"key":"10","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1089\/gtmb.2011.0157","volume":"16","year":"2012","journal-title":"Genetic Test Molecular Biomarkers"},{"issue":"13","key":"11","doi-asserted-by":"crossref","first-page":"5354","DOI":"10.1523\/JNEUROSCI.22-13-05354.2002","volume":"22","year":"2002","journal-title":"Journal of Neuroscience"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1038\/ng.712"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.2008.05486.x"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2593"},{"issue":"11","key":"15","doi-asserted-by":"crossref","first-page":"2253","DOI":"10.1128\/MCB.4.11.2253","volume":"4","year":"1984","journal-title":"Molecular and Cellular Biology"},{"issue":"12","key":"16","doi-asserted-by":"crossref","first-page":"5350","DOI":"10.1128\/MCB.8.12.5350","volume":"8","year":"1988","journal-title":"Molecular and Cellular Biology"},{"issue":"17","key":"17","doi-asserted-by":"crossref","first-page":"4078","DOI":"10.1093\/nar\/26.17.4078","volume":"26","year":"1998","journal-title":"Nucleic Acids Research"}],"container-title":["Case Reports in Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2014\/530134.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2014\/530134.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2014\/530134.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,11]],"date-time":"2020-05-11T21:33:40Z","timestamp":1589232820000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.hindawi.com\/journals\/crig\/2014\/530134\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014]]},"references-count":17,"alternative-id":["530134","530134"],"URL":"https:\/\/doi.org\/10.1155\/2014\/530134","relation":{},"ISSN":["2090-6544","2090-6552"],"issn-type":[{"type":"print","value":"2090-6544"},{"type":"electronic","value":"2090-6552"}],"subject":[],"published":{"date-parts":[[2014]]}}}