{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:16:13Z","timestamp":1761718573103},"reference-count":39,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,4,13]],"date-time":"2017-04-13T00:00:00Z","timestamp":1492041600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Autism Center of Excellence","award":["NICHD (P50 HD055751)","NIMH 5T32MH067631"],"award-info":[{"award-number":["NICHD (P50 HD055751)","NIMH 5T32MH067631"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,6]]},"abstract":"<jats:sec><jats:label \/><jats:p>Chromosomal abnormalities, such as unbalanced translocations and copy number variants (CNVs), are found in autism spectrum disorders (ASDs) [Sanders et al. (2011) Neuron 70: 863\u2013885]. Many chromosomal abnormalities, including sub microscopic genomic deletions and duplications, are missed by G\u2010banded karyotyping or Fragile X screening alone and are picked up by chromosomal microarrays [Shen et al. (2010) Pediatrics 125: e727\u2013735]. Translocations involving chromosomes 4 and 8 are possibly the second most frequent translocation in humans and are often undetected in routine cytogenetics [Giglio et al. (2002) Circulation 102: 432\u2013437]. Deletions of 4p16 have been associated with Wolf\u2010Hirschhorn syndrome while 4p16 duplications have been associated with an overgrowth syndrome and mild to moderate mental retardation [Partington et al. (1997) Journal of Medical Genetics 34: 719\u2013728]. The 8p23.3 region contains the autism candidate gene <jats:italic>DLGAP2<\/jats:italic>, which can contribute to autism when disrupted [Marshall et al. (2008) The American Journal of Human Genetics 82: 477\u2013488] . There has been a case report of a family with autism spectrum disorder (ASD), prominent obsessional behavior, and overgrowth in patients with der (8) t (4;8) p (16;23) [Partington et al. (1997)]. This is an independent report of a male patient with autism, obsessive compulsive disorder (OCD), attention\u2010deficit hyperactivity disorder (ADHD), and an overgrowth syndrome, whose de novo unbalanced translocation der (8) t (4;8) p (16.1\u2192ter; 23.1\u2192ter) was initially missed by routine cytogenetics but detected with SNP microarray, allowing higher resolution of translocation breakpoints.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38171","type":"journal-article","created":{"date-parts":[[2017,4,13]],"date-time":"2017-04-13T18:36:22Z","timestamp":1492108582000},"page":"1656-1662","source":"Crossref","is-referenced-by-count":10,"title":["De novo unbalanced translocation (4p duplication\/8p deletion) in a patient with autism, OCD, and overgrowth syndrome"],"prefix":"10.1002","volume":"173","author":[{"given":"Angela","family":"Sagar","sequence":"first","affiliation":[{"name":"Division of Psychiatry and Behavioral Sciences Children's National Medical Center Washington District of Columbia"},{"name":"Institute for Juvenile Research Department of Psychiatry University of Illinois at Chicago Chicago Illinois"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dalila","family":"Pinto","sequence":"additional","affiliation":[{"name":"The Centre for Applied Genomics The Hospital for Sick Children Toronto Ontario Canada"},{"name":"Departments of Psychiatry, and Genetics and Genomic Sciences Seaver Autism Center The Mindich Child Health &amp; Development Institute Icahn School of Medicine at Mount Sinai New York New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fedra","family":"Najjar","sequence":"additional","affiliation":[{"name":"Institute for Juvenile Research Department of Psychiatry University of Illinois at Chicago Chicago Illinois"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen J.","family":"Guter","sequence":"additional","affiliation":[{"name":"Institute for Juvenile Research Department of Psychiatry University of Illinois at Chicago Chicago Illinois"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carol","family":"Macmillan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Chicago Chicago Illinois"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edwin H.","family":"Cook","sequence":"additional","affiliation":[{"name":"Institute for Juvenile Research Department of Psychiatry University of Illinois at Chicago Chicago Illinois"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,4,13]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"283","article-title":"The Aberrant Behavior Checklist\u2010Community: Factor validity and effect of subject variables for adults in group homes","volume":"100","author":"Aman M. 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