Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2
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DOI: 10.1093/hmg/ddy028
Abstract: Recurrent, de novo, meiotic non-allelic homologous recombination events between low copy repeats, termed LCR22s, leads to the 22q11.2 deletion syndrome (22q11.2DS; velo-cardio-facial syndrome/DiGeorge syndrome). Although most 22q11.2DS patients have a similar sized 3 million base… read more here.
Keywords: 1680 22q11; 22q11 2ds; 2ds subjects; deletion ... See more keywords