TY - JOUR
T1 - Ten new cases of Balanced Reciprocal Translocation Mosaicism (BRTM)
T2 - Reproductive implications, frequency and mechanism
AU - Garzo, Maria
AU - Catusi, Ilaria
AU - Colombo, Daniela Maria
AU - De Grada, Laura
AU - Recalcati, Maria Paola
AU - Rodeschini, Ornella
AU - Barone, Chiara
AU - Beltrami, Nicola
AU - Busuito, Rosa
AU - Cappellani, Stefania
AU - Ciaschini, Anna Maria
AU - Gulisano, Anna
AU - Malpezzi, Elisabetta
AU - Pecile, Vanna
AU - Pittalis, Maria Carla
AU - Romitti, Lorenza
AU - Stioui, Sabine
AU - Larizza, Lidia
AU - Giardino, Daniela
PY - 2019/1/1
Y1 - 2019/1/1
N2 - 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.
AB - 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.
KW - Balanced reciprocal translocation mosaicism
KW - Miscarriage
KW - Progeny with chromosomal disorders
KW - Reproduction problems
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U2 - 10.1016/j.ejmg.2019.03.003
DO - 10.1016/j.ejmg.2019.03.003
M3 - Article
AN - SCOPUS:85062807725
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
SN - 1769-7212
ER -