Ten new cases of Balanced Reciprocal Translocation Mosaicism (BRTM): Reproductive implications, frequency and mechanism

M. Garzo, I. Catusi, D.M. Colombo, L. De Grada, M.P. Recalcati, O. Rodeschini, C. Barone, N. Beltrami, R. Busuito, S. Cappellani, A.M. Ciaschini, A. Gulisano, E. Malpezzi, V. Pecile, M.C. Pittalis, L. Romitti, S. Stioui, L. Larizza, D. Giardino

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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.

Original languageItalian
JournalEuropean Journal of Medical Genetics
Issue number2
Publication statusPublished - 2020

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