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We describe a patient diagnosed with BPES with atypical ovarian failure, characterized by normal levels of gonadotropins, who was found to have trisomy X as well as a translocation (3;11)(q22.3;q14.1). The translocation breakpoint at 3q22.3 is located upstream of the <jats:italic>FOXL2<\/jats:italic> gene and most likely causes BPES by separating the <jats:italic>FOXL2<\/jats:italic> transcription unit from its <jats:italic>cis<\/jats:italic>\u2010regulatory sequences. By array analysis we detected mosaicism for the balanced and an unbalanced form of the translocation in blood cells. We propose mitotic recombination as the likely mechanism of the mosaicism formation. Mitotic recombination is a common phenomenon in human cells. Thus, we hypothesize that it may be one of the mechanisms responsible for cryptic imbalances and possible abnormal phenotypes in some carriers of balanced rearrangements. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35516","type":"journal-article","created":{"date-parts":[[2012,8,6]],"date-time":"2012-08-06T20:11:33Z","timestamp":1344283893000},"page":"2322-2327","source":"Crossref","is-referenced-by-count":10,"title":["BPES with atypical premature ovarian insufficiency, and evidence of mitotic recombination, in a woman with trisomy X and a translocation 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