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In human, while <jats:italic>FOG\u20102 <\/jats:italic>mutations have been identified in sporadic cases of tetralogy of Fallot, no mutations are described to be associated with impaired gonadal function. We here describe a young boy with a balanced t(8;10)(q23.1;q21.1) translocation who was born with congenital secundum\u2010type atrial septal defect and gonadal dysgenesis. Fluorescence <jats:italic>in situ <\/jats:italic>hybridization mapped the chromosome 8 translocation breakpoint (bkp) to within the IVS4 of the <jats:italic>FOG\u20102 <\/jats:italic>gene, whereas the chromosome 10 bkp was found to lie in a desert gene region. Quantitative analysis of <jats:italic>FOG\u20102 <\/jats:italic>expression revealed the presence of a truncated transcript but there was no detectable change in the expression of the genes flanking the 10q bkp, thus making it possible to assign the observed clinical phenotype to altered <jats:italic>FOG\u20102 <\/jats:italic>expression. Genetic and clinical analyses provide insights into the signaling pathways by which FOG\u20102 affects not only cardiac development but also gonadal function and its preservation.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2007.00752.x","type":"journal-article","created":{"date-parts":[[2007,1,13]],"date-time":"2007-01-13T19:16:10Z","timestamp":1168715770000},"page":"195-204","source":"Crossref","is-referenced-by-count":32,"title":["Disruption of Friend of GATA 2 gene (<i>FOG\u20102<\/i>) by a <i>de novo <\/i>t(8;10) chromosomal translocation is associated with heart defects and gonadal 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