Diploid-triploid mixoploidy: clinical and cytogenetic aspects

A patient with 46, XY/69,XXY mixoploidy (a mixture of cell populations whose component cells differ in their chromosome numbers, irrespective of whether these numbers are euploid or aneuploid) who had some clinical manifestations of the Russell-Silver syndrome is reported. Triploidy results in a clinically recognizable lethal syndrome with hydatidiform placental changes, severe intrauterine growth deficiency, dysplastic cranial bones, eye defects, cleft lip and/or, palate malformed ears, micrognathia, syndactyly, genital anomalies and, rarely, spina bifida. Less severe are instances of diploid-triploid mixoploidy and patients are more likely to survive; one of these patients was detected at birth because of asymmetric growth deficiency with syndactyly. Cytogenetic and flow cytometric studies demonstrated absence of triploid cells in peripheral lymphocytes while varying proportions of triploid cells were found in fibroblast cultures derived from each limb. The triploid cell population disappeared with prolonged cell culture. Replication studies with 5-bromodeoxyuridine-DAPI fluorescence revealed two active X chromosomes, and marker chromosomes suggested a paternal origin for the extra haploid set. The following points are emphasized: (1) diploid-triploid mixoploidy can be suspected clinically; (2) the triploid cell population may not be detectable on examination of peripheral blood (3) the relative degree of asymmetry in the growth deficiency does not appear to relate to the proportion of triploid cells; and (4) both X chromosomes may remain active in the presence of an extra haploid set of chromosomes.