[Partial trisomy 12 and 8 with mosaicism, associated with translocation t(8;12) (p21;q13)]

A translocation affecting chromosomes 8 and 12 was detected in 11 persons of 3 generations of a family. The propositus, a child with multiple malformations, had a mosaicism consisting of (a) cells with 46 chromosomes which included the balanced translocation and (b) cells with 47 chromosomes and partially trisomic for chromosomes 8 and 12.