Three cases of mosaicism for balanced reciprocal translocations.
Mosaicism for a balanced reciprocal translocation (BRTM) is rare. As far as we know only 26 cases of BRTM, demonstrated in lymphocyte cultures, have been described, five of which had an abnormal phenotype. Prenatally three confirmed cases with a normal phenotypic outcome have been described. Here we present three further cases of BRTM in lymphocyte cultures. The first was detected during a family study, the second after an abnormal karyotype in chorionic villus sampling, and the third because of a history of stillborn children. All three carriers have normal phenotypes. An inventory of the BRTM cases reported so far is made.
Department of Medical Genetics, University of Groningen, The Netherlands. L.K.Leegte@med.rug.nl
B
B
Leegte
B
B
Sikkema-Raddatz
R
R
Hordijk
K
K
Bouman
T
T
van Essen
S
S
Castedo
B
B
de Jong
D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D009030:Mosaicism / Q000235:genetics*; D014178:Translocation, Genetic