{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T01:14:27Z","timestamp":1792804467737,"version":"4.5.0"},"reference-count":19,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2014,9,24]],"date-time":"2014-09-24T00:00:00Z","timestamp":1411516800000},"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":[[2014,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>The most frequent causes of Intellectual Disability (ID)\/Autism Spectrum Disorders (ASDs) are chromosomal abnormalities, genomic rearrangements and submicroscopic deletions coupled with duplications. We report here on an 11\u2010year\u2010old girl showing autism, macrocephaly, and facial dysmorphism, in which array\u2010CGH showed a de novo microdeletion of \u223c114\u2009Kb in the 14q11.2 chromosomal region, involving the <jats:italic>SUPT16H<\/jats:italic>, <jats:italic>CHD8<\/jats:italic>, and <jats:italic>RAB2B<\/jats:italic> genes. Four patients with ID and\/or ASD and\/or macrocephaly with overlapping deletions have been previously described: three showed very large rearrangements (&gt;1\u2009Mb), while one had a microdeletion of \u223c101\u2009Kb, largely overlapping the one reported herein. The minimal critical region, considering present and previous cases, contains the <jats:italic>SUPT16H<\/jats:italic> and <jats:italic>CHD8<\/jats:italic> genes. Notably, recent studies also disclosed <jats:italic>CHD8<\/jats:italic> heterozygous loss\u2010of\u2010function mutations in patients with ASD and macrocephaly. Our finding shows the presence of a recurrent microdeletion associated with a clinically recognizable phenotype, and further on underlines the pivotal role of <jats:italic>CHD8<\/jats:italic> gene in the pathogenesis of the disorder. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36741","type":"journal-article","created":{"date-parts":[[2014,9,24]],"date-time":"2014-09-24T18:35:17Z","timestamp":1411583717000},"page":"3137-3141","source":"Crossref","is-referenced-by-count":35,"title":["Recurrent \u223c100 Kb microdeletion in the chromosomal region 14q11.2, involving <i>CHD8<\/i> gene, is associated with autism and macrocephaly"],"prefix":"10.1002","volume":"164","author":[{"given":"Paolo","family":"Prontera","sequence":"first","affiliation":[{"name":"Centro di Riferimento Regionale di Genetica Medica Azienda Ospedaliera\u2010Universitaria di Perugia Perugia 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