An (11;21) Translocation in Four Generations with Chromosome 11 Abnormalities in the Offspring

Abstract

A family in which a translocation t(11; 21) (q23 ;q22) was segregating through three generations was studied clinically and cytogenetically. Individuals mono somic for the distal part of the long arm of chromosome No. 11 showed severe malformations and retardation. Apatient trisomic for this part of chromosome No. 11 was mentally retarded but less severely affected. Marker gene studies could exclude the location of several blood group loci at the distal part of the long arm of chromosome No. 11, but did not give any positive evidence of linkage to this part.