{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:47:37Z","timestamp":1760730457344},"reference-count":20,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,4,23]],"date-time":"2013-04-23T00:00:00Z","timestamp":1366675200000},"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":[[2013,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label \/><jats:p>We report on an 8\u2010year\u2010old female patient with multiple malformations including bilateral cleft lip and palate, coloboma, and craniosynostosis. She presented with severe intellectual disability, seizures, and gastrointestinal dysfunction. Mitochondrial investigations in a muscle biopsy revealed reduced activity in complex I of the mitochondrial respiratory chain. Chromosome analysis and fluorescent in situ hybridization (FISH) studies showed an isodicentric marker chromosome 14 that was identified in all cells analyzed in peripheral blood lymphocytes and cultured fibroblasts. Parental chromosome studies were normal. To further characterize the marker chromosome and determine its origin, we performed array\u2010based comparative genomic hybridization (CGH) and polymorphic marker analysis with quantitative fluorescent PCR (QF\u2010PCR). The combined results from cytogenetic and array\u2010CGH analyses showed tetrasomy 14p13q13.1 and results from the QF\u2010PCR point to formation of the marker chromosome in the maternal meiosis. Isodicentric chromosomes involving partial 14q have previously been reported in four cases; however, this is the first patient with tetrasomy 14p13q13.1 in non\u2010mosaic form surviving beyond infancy. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35887","type":"journal-article","created":{"date-parts":[[2013,4,23]],"date-time":"2013-04-23T21:13:32Z","timestamp":1366751612000},"page":"1284-1290","source":"Crossref","is-referenced-by-count":4,"title":["Partial tetrasomy 14 associated with multiple malformations"],"prefix":"10.1002","volume":"161","author":[{"given":"Johanna","family":"Winberg","sequence":"first","affiliation":[{"name":"Department of Molecular Medicine and Surgery and Center for Molecular Medicine Karolinska Institutet Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristina","family":"Lagerstedt Robinson","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery and 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