{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T00:10:04Z","timestamp":1792714204166,"version":"4.5.0"},"reference-count":32,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2014,10,22]],"date-time":"2014-10-22T00:00:00Z","timestamp":1413936000000},"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":[[2015,1]]},"abstract":"<jats:sec><jats:label\/><jats:p>Interstitial triplications of 15q11<jats:bold>\u2013<\/jats:bold>q13, leading to tetrasomy of the involved region, are very rare, with only 11 cases reported to date. Their pathogenicity is independent of the parental origin of the rearranged chromosome. The associated phenotype resembles, but is less severe, than that of patients bearing inv dup(15) marker chromosomes. Here, we describe a boy of 3 years and 9 months of age who exhibited very mild craniofacial dysmorphism (arched eyebrows, hypertelorism, and a wide mouth), developmental delay, generalized hypotonia, ataxic gait, severe intellectual disability, and autism. Array comparative genomic hybridization (CGH) analysis identified a heterozygous duplication of 1.1\u2009Mb at 15q11.2 (between low\u2010copy repeats BP1 and BP2), and a heterozygous triplication of 6.8\u2009Mb at 15q11.2\u2013q13.1 (BP2\u2013BP4). Both acquisitions were de novo and contiguous. Microsatellite polymorphism analysis revealed the maternal origin of the triplication and the involvement of both maternal chromosomes 15. Furthermore, fluorescence in situ hybridization (FISH) analysis using BAC clones revealed that the rearrangement was complex, containing three differently sized tandem repeats of which the middle one was inverted. Our study confirms and extends the model proposed to explain the formation of intrachromosomal triplications through recombination events between non\u2010allelic duplicons. The comparison of the proband's clinical presentation with those of previously described cases attests the existence of endophenotypes due to the parental origin of the 15q11\u2013q13 triplicated segment and suggests a timetable for achievement of developmental milestones, thereby contributing to improved genotype\u2013phenotype correlations. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36815","type":"journal-article","created":{"date-parts":[[2014,10,22]],"date-time":"2014-10-22T16:49:28Z","timestamp":1413996568000},"page":"221-230","source":"Crossref","is-referenced-by-count":17,"title":["Complex <i>de novo<\/i> chromosomal rearrangement at 15q11\u2013q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: Clinical report and review of the literature"],"prefix":"10.1002","volume":"167","author":[{"given":"Chiara","family":"Castronovo","sequence":"first","affiliation":[{"name":"Laboratory of Medical 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Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Russo","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Cytogenetics and Molecular Genetics IRCCS Istituto Auxologico Italiano Milano Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lidia","family":"Larizza","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Cytogenetics and Molecular Genetics IRCCS Istituto Auxologico Italiano Milano Italy"},{"name":"Medical Genetics Department of Health Sciences University of Milan Milano Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Sangermani","sequence":"additional","affiliation":[{"name":"Clinic of Neuropediatrics San Carlo Borromeo Hospital Milano Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Teresa","family":"Bonati","sequence":"additional","affiliation":[{"name":"Clinic of Clinical Genetics San Luca Hospital IRCCS 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