Leegte B, Sikkema-Raddatz B, Hordijk R, Bouman K, van Essen T, Castedo S, de Jong B
Department of Medical Genetics, University of Groningen, The Netherlands.
Am J Med Genet. 1998 Oct 12;79(5):362-5.
Mosaicism for a balanced reciprocal translocation (BRTM) is rare. As far as we know only 26 cases of BRTM, demonstrated in lymphocyte cultures, have been described, five of which had an abnormal phenotype. Prenatally three confirmed cases with a normal phenotypic outcome have been described. Here we present three further cases of BRTM in lymphocyte cultures. The first was detected during a family study, the second after an abnormal karyotype in chorionic villus sampling, and the third because of a history of stillborn children. All three carriers have normal phenotypes. An inventory of the BRTM cases reported so far is made.
平衡易位嵌合体（BRTM）很罕见。据我们所知，仅描述了26例在淋巴细胞培养中显示的BRTM病例，其中5例具有异常表型。产前已描述了3例表型正常的确诊病例。在此，我们报告淋巴细胞培养中的另外3例BRTM病例。第一例在家族研究中被检测到，第二例在绒毛膜绒毛取样时核型异常后被发现，第三例因有死产史而被发现。所有3例携带者均具有正常表型。对迄今为止报道的BRTM病例进行了汇总。
