Segregation of a t(14q22q) chromosome in a large kindred

Abstract

A large kindred is reported in which 21 members are balanced t(14q22q) carriers. The components of the translocation were identified by autoradiography and G-banding. With the exception of the index case, who was retarded, all of the carriers were phenotypically normal. The segregation pattern of the translocation chromosome was determined in two complete generations. All eight of the progeny in one generation were balanced carriers, and the carrier father of this generation may have been homozygous for the t(14q22q) chromosome. Segregation in the next generation was closer to the expected 1:1 ratio of carrier to non-carrier, the ratio being 11:13.