{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T15:56:03Z","timestamp":1792079763386,"version":"4.4.0"},"reference-count":11,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2021,5,31]],"date-time":"2021-05-31T00:00:00Z","timestamp":1622419200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen & Gen Med"],"published-print":{"date-parts":[[2021,7]]},"abstract":"Abstract<\/jats:title>\n \n Background<\/jats:title>\n \n There is a small, but growing number of reports of pediatric patients with terminal deletions at 3p26.3 involving only the cell adhesion molecule L1\u2010like (\n CHL1)<\/jats:italic>\n gene that has been found to have language delays and intellectual disability. Here we report a one month of age patient who developed seizures and tone abnormalities, with persistent and prominent gross and fine motor delays. The patient has microcephaly and deficits in language and cognitive delays, similar to what has been seen in previous case reports.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n Chromosome and microarray comparative genomic hybridization (aCGH) analysis was performed to identify clinically significant copy number variants (CNVs). In addition, Fluorescent in\u2010situ hybridization (FISH) was performed to confirm the aCGH findings.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Chromosome analysis revealed an apparently normal (46,XX) female karyotype. Microarray CGH analysis revealed a 639\u00a0kb loss at 3p26.3 from 62199 to 701052 base pairs encompassing the whole\n CHL1<\/jats:italic>\n \u00a0gene that was confirmed by FISH. Parental follow\u2010up revealed the deletion as maternal in origin.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n This case report adds to the limited body of literature that exists on this terminal deletion at 3p26.3 that involves CHL1\u00a0gene, and supports prior proposals of an emerging\n CHL1<\/jats:italic>\n \u00a0microdeletion syndrome that results in language and cognitive delays. Further studies are needed to understand the degree of phenotypic heterogeneity associated with CHL1\u00a0gene deletion and whether the size of the deletion or presence of additional copy number variants (CNVs) which were seen in other case reports help predict the expected phenotype for a patient.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/mgg3.1725","type":"journal-article","created":{"date-parts":[[2021,5,31]],"date-time":"2021-05-31T03:06:56Z","timestamp":1622430416000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["CHL1<\/i>\n deletion is associated with cognitive and language disabilities \u2013 Case report and review of literature"],"prefix":"10.1002","volume":"9","author":[{"given":"Melissa","family":"Tsuboyama","sequence":"first","affiliation":[{"name":"Department of Neurology Division of Child Neurology University of Rochester Medical Center Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7552-1703","authenticated-orcid":false,"given":"Mohammed Anwar","family":"Iqbal","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Division of Cytogenetics University of Rochester Medical Center Rochester New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,5,31]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4978"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-12"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/jnr.10250"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg165"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.534"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.3280-13.2014"},{"issue":"51","key":"e_1_2_9_8_1","first-page":"1","article-title":"Novel microduplication of CHL1 gene in a patient with autism spectrum disorder: A case report and a brief literature review","volume":"9","author":"Li C.","year":"2016","journal-title":"Molecular Cytogenetics"},{"issue":"66","key":"e_1_2_9_9_1","first-page":"1","article-title":"De novo microduplication of CHL1 in a patient with non\u2010syndromic developmental phenotypes","volume":"8","author":"Palumbo O.","year":"2015","journal-title":"Molecular Cytogenetics"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33215"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0033-1333874"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2014.09.007"}],"container-title":["Molecular Genetics & Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1725","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1725","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1725","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T10:56:31Z","timestamp":1693306591000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1725"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5,31]]},"references-count":11,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2021,7]]}},"alternative-id":["10.1002\/mgg3.1725"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1725","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,5,31]]},"assertion":[{"value":"2020-11-25","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-05-11","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-05-31","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1725"}}