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Ten new cases of Balanced Reciprocal Translocation Mosaicism (BRTM): Reproductive implications, frequency and mechanism. 2020
Maria Garzo, and
Ilaria Catusi, and
Daniela Maria Colombo, and
Laura De Grada, and
Maria Paola Recalcati, and
Ornella Rodeschini, and
Chiara Barone, and
Nicola Beltrami, and
Rosa Busuito, and
Stefania Cappellani, and
Anna Maria Ciaschini, and
Anna Gulisano, and
Elisabetta Malpezzi, and
Vanna Pecile, and
Maria Carla Pittalis, and
Lorenza Romitti, and
Sabine Stioui, and
Lidia Larizza, and
Daniela Giardino
Istituto Auxologico Italiano, IRCCS, Lab. di Citogenetica Medica, Milano, Italy. Electronic address: m.garzo@auxologico.it.
Chromosomal anomalies are well known to be an important cause of infertility, sterility and pregnancy loss. Balanced Reciprocal Translocation Mosaicism (BRTM) is an extremely rare phenomenon, mainly observed in subjects with a normal phenotype accompanied by reproductive failure. To date the mechanism of origin and the incidence of BRTM are poorly defined. Here we describe 10 new cases of BRTM. In 9 cases chromosome analysis revealed the presence of two different cell lines, one with a normal karyotype and the second with an apparently balanced reciprocal translocation. In the remaining case, both cell lines showed two different, but apparently balanced, reciprocal translocations. We document the clinical implications of BRTM, discuss its frequency in our referred population and suggest that carrier individuals might be more frequent than expected.
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