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MDiGS identification of recurrent chromosome 17q23.1q23.2 duplications. Recurrent chromosome 17q23.1q23.2 duplications spanning the entire target region were identified using MDiGS method 2, pooled CNV analysis, in (A) three positive controls and one additional clubfoot proband (novel). The novel chromosome 17q23.1q23.2 duplication (in pt 5853001) was (B) validated by qPCR and (C) shown to segregate with the affected parent.
