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Parental germline mosaic transmission of 5p13.2 microduplication in two siblings of a Chinese family

Microduplications are chromosomal duplications that are too small to be detected by conventional karyotyping. Highresolution genetic analysis is needed to identify these anomalies. The main mechanism of duplications that leads to the phenotypic effects is a change in the copy number of a dose-sensitive gene or genes, or interference with imprinted genes (Goldenberg 2018). Most clinically significant microduplications occur sporadically, with the evidence that the duplication is only detected in the patient, but not in the parents nor in healthy siblings. We here report a recurrent 5p13.2 microduplication in a Chinese family due to paternal germline mosaicism.