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Key Clinical Message   We present the case of a 30‐year‐old woman with a history of perinatal complications as well as bladder and urinary disease through her childhood and adult life. Microarray comparative genomic hybridization ( aCGH ) analysis revealed a 1.3 megabase duplication at chromosome 8q21.11 encompassing the  CASC 9 and  HNF 4G genes.

clinical case reports

Novel 1.3 Mb germline duplication in chromosome 8q21.11 by microarray comparative genomic hybridization plus single nucleotide polymorphism analysis in an adult patient with pancytopenia and urinary bladder complications