A case of de novo i(12p) with 12q whole‐arm translocation mosaicism

Abstract
We report a dup(12p) due to a de novo i(12p) in a girl with mosaicism for 12q whole‐arm translocations onto 7p, 7q, and 11q terminal regions. The dup(12p) syndrome was confirmed by clinical, cytogenetic, and LDH‐dosage studies.