{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T18:55:27Z","timestamp":1740164127876,"version":"3.37.3"},"reference-count":7,"publisher":"Wiley","license":[{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2017]]},"abstract":"<jats:p>Interstitial deletions of 4q are rarely reported, vary in size, and have limited genotype-phenotype correlations. Here, genome-wide array CGH analysis identified a 21.6\u2009Mb region of copy number loss at 4q12-q21.1 in a patient diagnosed with dysmorphism, linear skin pigmentation, and hepatomegaly. An additional small ring chromosome was detected in 5\/30 cells examined via G-banding. Confirmation of the origin of the ring chromosome was obtained by FISH analysis which identified that the ring chromosome contained material from the deleted region of chromosome 4 and was therefore complementary to the 21.6\u2009Mb deletion. Further microarray studies in the proband using a different microarray platform showed no evidence of mosaicism. This case highlights the importance of an integrated approach to cytogenetic analysis and demonstrates the value of G-banding for detecting mosaicism, as current microarray platforms are unable to detect low level mosaics.<\/jats:p>","DOI":"10.1155\/2017\/4894515","type":"journal-article","created":{"date-parts":[[2017,7,27]],"date-time":"2017-07-27T17:04:09Z","timestamp":1501175049000},"page":"1-4","source":"Crossref","is-referenced-by-count":0,"title":["An Interstitial 4q Deletion with a Mosaic Complementary Ring Chromosome in a Child with Dysmorphism, Linear Skin Pigmentation, and Hepatomegaly"],"prefix":"10.1155","volume":"2017","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5974-9962","authenticated-orcid":true,"given":"J.","family":"Carter","sequence":"first","affiliation":[{"name":"NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Brittain","sequence":"additional","affiliation":[{"name":"NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Morrogh","sequence":"additional","affiliation":[{"name":"NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Lench","sequence":"additional","affiliation":[{"name":"Congenica Ltd., Wellcome Trust Campus, Hinxton, Cambridge CB10 15A, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. J.","family":"Waters","sequence":"additional","affiliation":[{"name":"NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1186\/s13578-016-0115-5"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2013.02.014"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4105"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980106)75:1<78::AID-AJMG16>3.0.CO;2-P"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.8.692"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36821"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37291"}],"container-title":["Case Reports in Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2017\/4894515.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2017\/4894515.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2017\/4894515.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,7,27]],"date-time":"2017-07-27T17:04:10Z","timestamp":1501175050000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/crig\/2017\/4894515\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017]]},"references-count":7,"alternative-id":["4894515","4894515"],"URL":"https:\/\/doi.org\/10.1155\/2017\/4894515","relation":{},"ISSN":["2090-6544","2090-6552"],"issn-type":[{"type":"print","value":"2090-6544"},{"type":"electronic","value":"2090-6552"}],"subject":[],"published":{"date-parts":[[2017]]}}}