Diploid-triploid mosaicism can be associated with truncal obesity, body/facial asymmetry, weak muscle tone (hypotonia), delays in growth, mild differences in facial features, fusion or webbing between some of the fingers and/or toes (syndactyly) and irregularities in the skin pigmentation.

The chromosome disorder is usually not present in the blood; a skin biopsy, or analyzing cells in the urine is needed to detect the triploid cells.

[1] Diploid-triploid individuals may have the karyotypes 46,XX/69,XXX or 46,XX/69,XXY.

Almost all diploid-triploid individuals who are phenotypically female have the karyotype 46,XX/69,XXX, but a case has been reported where a 46,XX/69,XXY individual developed as phenotypically female.

[2] Triploidy is distinct from trisomy, in which only one chromosome exists in three pairs.