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She carried a supernumerary marker chromosome derived from chromosomes 4 and 9, leading to 4pter\u2010q12 and 9pter\u2010p21.2 duplication. The marker was derived from the 3:1 segregation of a maternal balanced translocation 46,XX, t(4;9)(q12;p21.2). The proposita is the first reported individual with distal phalangeal agenesis and anonychia, and trisomy 4p and partial trisomy 9p due to 3:1 segregation of a maternal reciprocal translocation. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35494","type":"journal-article","created":{"date-parts":[[2012,7,21]],"date-time":"2012-07-21T08:38:10Z","timestamp":1342859890000},"page":"2277-2282","source":"Crossref","is-referenced-by-count":3,"title":["Nail and phalangeal agenesis in a patient with 4pter and 9pter 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