3 CASES OF MOSAICISM FOR BALANCED RECIPROCAL TRANSLOCATIONS

Mosaicism for a balanced reciprocal translocation (BRTM) is rare. As f ar as we know only 26 cases of BRTM, demonstrated in lymphocyte cultur es, have been described, five of which had an abnormal phenotype. Pren atally three confirmed cases with a normal phenotypic outcome have bee n described. Here we present three further cases of BRTM in lymphocyte cultures. The first was detected during a family study, the second af ter an abnormal karyotype in chorionic villus sampling, and the third because of a history of stillborn children, All three carriers have no rmal phenotypes, An inventory of the BRTM cases reported so far is mad e. Am. J. Med. Genet. 79:362-365, 1998, (C) 1998 Wiley-Liss, Inc.