十例新的平衡易位嵌合体（BRTM）病例：生殖影响、发生率及机制

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

作者信息

Garzo Maria, Catusi Ilaria, Colombo Daniela Maria, De Grada Laura, Recalcati Maria Paola, Rodeschini Ornella, Barone Chiara, Beltrami Nicola, Busuito Rosa, Cappellani Stefania, Ciaschini Anna Maria, Gulisano Anna, Malpezzi Elisabetta, Pecile Vanna, Pittalis Maria Carla, Romitti Lorenza, Stioui Sabine, Larizza Lidia, Giardino Daniela

机构信息

Istituto Auxologico Italiano, IRCCS, Lab. di Citogenetica Medica, Milano, Italy.

出版信息

Eur J Med Genet. 2020 Feb;63(2):103639. doi: 10.1016/j.ejmg.2019.03.003. Epub 2019 Mar 8.

DOI:10.1016/j.ejmg.2019.03.003

PMID:30858057

Abstract

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.

摘要

染色体异常是导致不孕、不育和流产的重要原因，这一点众所周知。平衡易位嵌合体（BRTM）是一种极其罕见的现象，主要在表型正常但伴有生殖功能障碍的个体中观察到。迄今为止，BRTM的起源机制和发病率尚不清楚。在此，我们描述了10例BRTM新病例。在9例中，染色体分析显示存在两种不同的细胞系，一种核型正常，另一种具有明显平衡的相互易位。在其余1例中，两个细胞系均显示出两种不同但明显平衡的相互易位。我们记录了BRTM的临床意义，讨论了其在我们所诊治人群中的发生率，并表明携带者个体可能比预期更为常见。