Müller U, Weber J L, Berry P, Kupke K G
Institut für Humangenetik, Justus-Liebig-Universität Giessen, Germany.
J Med Genet. 1993 Jul;30(7):597-600. doi: 10.1136/jmg.30.7.597.
A case of 46,XX/69,XXX mixoploidy is described. The patient had a normal 46,XX diploid karyotype in lymphocytes but a triploid 69,XXX cell line in most of her fibroblasts. In order to learn more about the underlying mechanism resulting in mixoploidy, we studied short tandem repeat polymorphisms (STRPs) in lymphocyte DNA of the patient's parents and in both lymphocyte and fibroblast DNA of the proband. The findings showed maternal origin of the supernumerary chromosome complement and are best explained by second polar body incorporation into a blastomere.
本文描述了一例46,XX/69,XXX混合倍体病例。该患者淋巴细胞具有正常的46,XX二倍体核型，但大多数成纤维细胞中存在三倍体69,XXX细胞系。为了更深入了解导致混合倍体的潜在机制，我们研究了患者父母淋巴细胞DNA以及先证者淋巴细胞和成纤维细胞DNA中的短串联重复多态性（STRP）。结果表明多余染色体组来自母亲，最合理的解释是第二极体并入了一个卵裂球。
