{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,17]],"date-time":"2026-05-17T07:08:49Z","timestamp":1779001729291,"version":"3.51.4"},"reference-count":13,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2014,3,26]],"date-time":"2014-03-26T00:00:00Z","timestamp":1395792000000},"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":[[2014,7]]},"abstract":"<jats:sec><jats:label\/><jats:p>Cri\u2010du\u2010chat is a rare congenital syndrome characterized by intellectual disability, severe speech\/developmental delay, dysmorphic features, and additional syndromic findings. The etiology of this disorder is well known, and is attributed to a large deletion on chromosome 5 that typically ranges from band 5p15.2 to the short arm terminus. This region contains <jats:italic>CTNND2<\/jats:italic>, a gene encoding a neuronal\u2010specific protein, delta\u2010catenin, which plays a critical role in cellular motility and brain function. The exact involvement of <jats:italic>CTNND2<\/jats:italic> in the cognitive functionality of individuals with Cri\u2010du\u2010chat has not been fully deciphered, but it is thought to be significant. This report describes an 8\u2010year\u2010old African\u2013American female with a complex chromosome 5 abnormality and a relatively mild case of cri\u2010du\u2010chat syndrome. Because of the surprisingly mild cognitive phenotype, although a karyotype had confirmed the 5p deletion at birth, an oligo\u2010SNP microarray was obtained to further characterize her deletion. The array revealed a complex rearrangement, including a breakpoint in the middle of <jats:italic>CTNND2<\/jats:italic>, which resulted in a partial deletion and partial duplication of that gene. The array also verified the expected 5p terminal deletion. Although the patient has a significant deletion in <jats:italic>CTNND2<\/jats:italic>, half of the gene (including the promoter region) is not only preserved, but is duplicated. The patient's milder cognitive and behavioral presentation, in conjunction with her atypical 5p alteration, provides additional evidence for the role of <jats:italic>CTNND2<\/jats:italic> in the cognitive phenotype of individuals with Cri\u2010du\u2010chat. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36494","type":"journal-article","created":{"date-parts":[[2014,3,26]],"date-time":"2014-03-26T17:42:58Z","timestamp":1395855778000},"page":"1761-1764","source":"Crossref","is-referenced-by-count":28,"title":["Amelioration of the typical cognitive phenotype in a patient with the 5pter deletion associated with Cri\u2010du\u2010chat syndrome in addition to a partial duplication of <i>CTNND2<\/i>"],"prefix":"10.1002","volume":"164","author":[{"given":"Jennifer M.","family":"Sardina","sequence":"first","affiliation":[{"name":"Division of Genetics and Metabolism, Department of Pediatrics University of California, Irvine School of Medicine Orange California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Allyson R.","family":"Walters","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism, Department of Pediatrics University of California, Irvine School of Medicine Orange California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathryn E.","family":"Singh","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism, Department of Pediatrics University of California, Irvine School of Medicine Orange California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renius X.","family":"Owen","sequence":"additional","affiliation":[{"name":"Quest Diagnostics Laboratory San Juan Capistrano California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virginia E.","family":"Kimonis","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism, Department of Pediatrics University of California, Irvine School of Medicine Orange California"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,3,26]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"567","article-title":"A neuropsychological\u2010genetic profile of atypical cri du chat syndrome: Implications for prognosis","volume":"36","author":"Cornish KM","year":"1999","journal-title":"J Med Genet"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gks1236"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02346193"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2004.08.065"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.3.151"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2005.12.004"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2012.03.008"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1999.6090"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF03195641"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00394291"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.2.247"},{"key":"e_1_2_5_13_1","first-page":"302","article-title":"Pericentric inversion 9\u2013incidence and clinical significance","volume":"24","author":"Teo SH","year":"1995","journal-title":"Ann Acad Med Singapore"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2006-7-s1-s12"}],"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.36494","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36494","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36494","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T23:32:32Z","timestamp":1696548752000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36494"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,3,26]]},"references-count":13,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2014,7]]}},"alternative-id":["10.1002\/ajmg.a.36494"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36494","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,3,26]]}}}