{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T18:30:02Z","timestamp":1760985002840},"reference-count":11,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2014,4,3]],"date-time":"2014-04-03T00:00:00Z","timestamp":1396483200000},"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>Interstitial deletions of the distal part of chromosome 2p seem to be rarely identified or reported: to date, only nine distinct patients have been published. The last three patients were diagnosed with the use of more recent molecular karyotyping technology (SNP array). We report on the natural history of an 8\u2010year\u2010old boy with dysmorphic features, postnatal overgrowth, microcephaly, generalized hypotonia, and global developmental delay. The diagnosis was accomplished by SNP array investigation that led to the identification of a de novo 7.4\u2009Mb deletion of 2p23.2\u2013p24.1. The present patient also developed a nonsyndromic auditory neuropathy. Since the deletion encompassed the <jats:italic>OTOF<\/jats:italic> gene, this haploinsufficiency suggests second allele sequencing as a possible cause (DFNB9). We describe the phenotype of the patient and review reports in patients with del 2p23 subsequent to the advent of the genomic era. At the time of identification of \u201cnew\u201d micro\u2010 deletion and \u2010duplication syndromes, the present report adds to the description of phenotype in patients with del(2)p(23.2;24.1) and the 2p23.2 region in particular. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36516","type":"journal-article","created":{"date-parts":[[2014,4,3]],"date-time":"2014-04-03T20:27:40Z","timestamp":1396556860000},"page":"1789-1794","source":"Crossref","is-referenced-by-count":4,"title":["Further phenotype description, genotype characterization in patients with de novo interstitial deletion on 2p23.2\u201324.1"],"prefix":"10.1002","volume":"164","author":[{"given":"Mercedes","family":"Bloch","sequence":"first","affiliation":[{"name":"Center for Human Genetics Cliniques Universitaires St. Luc Universit\u00e9 Catholique de Louvain Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anissa","family":"Leonard","sequence":"additional","affiliation":[{"name":"Pediatric Department Cliniques Universitaires St. Luc Universit\u00e9 Catholique de Louvain Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas A.","family":"Diplas","sequence":"additional","affiliation":[{"name":"Center for Human Genetics Cliniques Universitaires St. Luc Universit\u00e9 Catholique de Louvain Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xavier","family":"Pepermans","sequence":"additional","affiliation":[{"name":"Center for Human Genetics Cliniques Universitaires St. Luc Universit\u00e9 Catholique de Louvain Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beverly S.","family":"Emanuel","sequence":"additional","affiliation":[{"name":"Division of Human Genetics and Department of Pediatrics The Children's Hospital of Philadelphia Perelman School of Medicine at the University of Pennsylvania Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Santa","family":"Rocca","sequence":"additional","affiliation":[{"name":"Institute for Maternal and Child Health IRCCS \u201cB Garofolo\u201d Trieste Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole","family":"Revencu","sequence":"additional","affiliation":[{"name":"Center for Human Genetics Cliniques Universitaires St. Luc Universit\u00e9 Catholique de Louvain Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yves","family":"Sznajer","sequence":"additional","affiliation":[{"name":"Center for Human Genetics Cliniques Universitaires St. Luc Universit\u00e9 Catholique de Louvain Brussels 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