Partial trisomy of 1q is rare. Only 32 cases of isolated partial trisomy 1q have been previously reported. From these cases, a characteristic phenotype is beginning to emerge. We present a case of mosaic duplication of 1q [46,XX,dup (1)(q11q44)/46,XX]. Many features of our patient have been described in previous patients, thus supporting the emerging phenotype. Two particular features, however, have not been previously described. The present case demonstrated extensive mineralization of the extraplacental membranes and bilateral nephromegaly, with an extreme form of diffusely hyperplastic perilobar nephroblastomatosis. Clinical comparison is made between our case and previously reported cases, and the clinical significance of the unique findings are reviewed and discussed.
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