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

Autor: Garzo M; Istituto Auxologico Italiano, IRCCS, Lab. di Citogenetica Medica, Milano, Italy. Electronic address: m.garzo@auxologico.it., Catusi I; Istituto Auxologico Italiano, IRCCS, Lab. di Citogenetica Medica, Milano, Italy., Colombo DM; Istituto Auxologico Italiano, IRCCS, Lab. di Citogenetica Medica, Milano, Italy., De Grada L; Istituto Auxologico Italiano, IRCCS, Lab. di Citogenetica Medica, Milano, Italy., Recalcati MP; Istituto Auxologico Italiano, IRCCS, Lab. di Citogenetica Medica, Milano, Italy., Rodeschini O; Istituto Auxologico Italiano, IRCCS, Lab. di Citogenetica Medica, Milano, Italy., Barone C; ARNAS Garibaldi Nesima, Catania, Italy; L.C. Laboratori Campisi srl, Avola, SR, Italy., Beltrami N; L.C. Laboratori Campisi srl, Avola, SR, Italy., Busuito R; UOS Citogenetica Laboratorio Analisi ASST Ovest Milanese, Presidio Ospedaliero di Legnano, Italy., Cappellani S; Lab di Genetica Medica, IRCCS Burlo Garofolo, Trieste, Italy., Ciaschini AM; Lab. di Genetica Medica SOS Malattie Rare, AOU Ospedali Riuniti Umberto I-G.M.Lancisi-G.Salesi, Ancona, Italy., Gulisano A; L.C. Laboratori Campisi srl, Avola, SR, Italy., Malpezzi E; Policlinio S.Orsola-Malpighi, U.O.Ostetricia e Medicina dell'età Prenatale, Laboratorio di Citogenetica, Bologna, Italy., Pecile V; Lab di Genetica Medica, IRCCS Burlo Garofolo, Trieste, Italy., Pittalis MC; Policlinio S.Orsola-Malpighi, U.O.Ostetricia e Medicina dell'età Prenatale, Laboratorio di Citogenetica, Bologna, Italy., Romitti L; ASST Grande Ospedale Metropolitano Niguarda,SC Anatomia Istologia Patologica e Citogenetica, Milano, Italy., Stioui S; Lab di Citogenetica e Genetica Medica - Laboratorio Analisi Humanitas Research Hospital, Rozzano, MI, Italy., Larizza L; Istituto Auxologico Italiano, IRCCS, Lab. di Citogenetica Medica, Milano, Italy., Giardino D; Istituto Auxologico Italiano, IRCCS, Lab. di Citogenetica Medica, Milano, Italy.
Jazyk: angličtina
Zdroj: European journal of medical genetics [Eur J Med Genet] 2020 Feb; Vol. 63 (2), pp. 103639. Date of Electronic Publication: 2019 Mar 08.
DOI: 10.1016/j.ejmg.2019.03.003
Abstrakt: 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.
(Copyright © 2019 Elsevier Masson SAS. All rights reserved.)
Databáze: MEDLINE
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