An inherited translocation t(4;15) (p16;q22) leading to two cases of partial trisomy 15

A 4 yr old girl with severe mental retardation and multiple congenital abnormalities manifested 'partial trisomy 15'. Her mother, pregnant at the time of examination, possessed a balanced translocation which, with the use of banding techniques, was identified as t(4;15)(p16;q22). Amniocentesis revealed the karyotype of the fetus to be identical to that of the proposita and a therapeutic abortion was performed. Prenatal investigation of a subsequent pregnancy revealed a normal male karyotype. By comparison of the proposita and an aborted fetus of this family with the other 5 reported cases of 'partial trisomy 15', a precise recognizable clinical syndrome could not be determined.