Annerén G, Frykberg T, Gustavson K H
Clin Genet. 1981 Oct;20(4):289-95. doi: 10.1111/j.1399-0004.1981.tb01035.x.
In a family with a balanced translocation t(8;19)(p21p13), there was a boy with true hermaphroditism and a karyotype 46,XX/46XY, t(8p;19p), and a woman with Turner mosaicism 46,XX, t(8p;19p). Both of them had whole body chimerism, which in the boy and possibly also in woman was due to the occurrence of double fertilization followed by fusion of the zygotes. The pathogenetic importance of the translocation for the development of these aberrations, and the clinical picture in the two patients are discussed.
在一个患有平衡易位t(8;19)(p21p13)的家庭中，有一名患有真性两性畸形且核型为46,XX/46,XY,t(8p;19p)的男孩，以及一名患有46,XX,t(8p;19p)特纳嵌合体的女性。他们两人都有全身嵌合现象，在男孩中可能在女性中也是如此，这是由于双受精后合子融合所致。讨论了易位对于这些异常发育的致病重要性以及两名患者的临床表现。
