Abstract
A case of partial trisomy 14 (47,+14q-) is presented. The proband''s mother had a balanced translocation of 14q with the long arm of a No. 3 chromosome. Clinical and cytogenetic findings of this case are compared with 5 other cases of 47,+14q-, in which 1 parent had a balanced translocation of the distal part of the No. 14 long arm to another chromosome. This chrosomal aneuploidy produces a fairly typical clinical picture.