染色体易位
不育
核型
生物
遗传学
不育
互惠的
表型
人口
机制(生物学)
染色体
怀孕
医学
基因
认识论
哲学
环境卫生
语言学
作者
Maria Garzo,Ilaria Catusi,Desirée Colombo,L. De Grada,Maria Paola Recalcati,Ornella Rodeschini,Chiara Barone,Nicola Beltrami,Rosa Busuito,Stefania Cappellani,Anna Maria Ciaschini,Anna Gulisano,Elisabetta Malpezzi,Vanna Pecile,Maria Carla Pittalis,Lorenza Romitti,Sabine Stioui,Lidia Larizza,Daniela Giardino
标识
DOI:10.1016/j.ejmg.2019.03.003
摘要
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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