Maeda T, Ohno M, Takada M, Nishida M, Tsukioka K, Tomita H
Clin Genet. 1979 Mar;15(3):259-66. doi: 10.1111/j.1399-0004.1979.tb00977.x.
A 31-year-old woman of short stature with severe oligomenorrhea was found to carry a duplication-deficiency X chromosome, 46,X,rec(X)dup q,inv(X)(p22q11), inherited from her mother who carried a pericentric inversion X chromosome, 46,X,inv(X)(p22q11). By a combination of autoradiography and BUdR incorporation, the duplication-deficiency X chromosome was always found to be the inactive and late replicating one. In the cultured fibroblasts with the recombinant X chromosome, some of the cells were seen to have bipartite X chromatin bodies. In the mother with inv(X), the normal and the inverted X chromosome were inactivated at random.
一名身材矮小、月经过少的31岁女性被发现携带一条重复缺失的X染色体，核型为46,X,rec(X)dup q,inv(X)(p22q11)，该染色体遗传自她的母亲，其母亲携带一条臂间倒位的X染色体，核型为46,X,inv(X)(p22q11)。通过放射自显影和溴脱氧尿苷掺入法相结合的方法，总是发现这条重复缺失的X染色体是失活且复制延迟的。在带有重组X染色体的培养成纤维细胞中，一些细胞可见二分体X染色质体。在患有X染色体倒位的母亲体内，正常和倒位的X染色体随机失活。
