Lodi A, Monti D, Gaspari G, Ravaglia G, Guadagni C, Businello M, Lamedica R, Lenzi S
J Endocrinol Invest. 1979 Oct-Dec;2(4):419-21. doi: 10.1007/BF03349343.
A case of two nontwin brothers, 19 and 17 years old, who had both Klinefelter's syndrome with a chromosomal mosaicism 46 XY/47 XXY, is reported here. The analysis of their mother's karyotype revealed a 46 XX/47 XXX mosaicism. It is hypothesized that the presence of an extra X chromosome in all three subjects could depend on the transmission of two X chromosomes from the mother to the sons or, less likely, on an increased liability to nondisjunction of the X chromosomes during one of the early mitotic divisions in the zygotes.
本文报道了一例19岁和17岁的非双胞胎兄弟，他们均患有克兰费尔特综合征，染色体核型为46 XY/47 XXY嵌合体。对他们母亲的核型分析显示为46 XX/47 XXX嵌合体。据推测，这三名受试者中额外X染色体的存在可能取决于母亲向儿子传递了两条X染色体，或者可能性较小的是，取决于合子早期有丝分裂过程中X染色体不分离的易感性增加。
