Balanced reciprocal translocation mosaicism: clinical implications. Two new cases
Vargas, M.T.; Fernández-Novoa, M.C.
Genetic Counseling 12(3): 269-271
2001
ISSN/ISBN: 1015-8146 PMID: 11693791 Document Number: 535840
Two new cases of balanced reciprocal translocation mosaicism (BRTM) are described, one with early miscarriages and a poly-malformed child and the second showing an abnormal phenotype resembling the three cases previously reported in literature. The frequency of this aberration in the population referred to in our laboratory is determined and compared with previous publications.