Ratomponirina C, Couturier J, Gabriel-Robez O, Rumpler Y, Dutrillaux B, Croquette M, Rabache Q, Leduc M
Ann Genet. 1985;28(4):214-8.
An unbalanced translocation 46,XY,-14,+der(14)t(Y;14)(q11;p11) was observed in an azoospermic male, with reduced spermatogenesis and absent spermiogenesis. At the pachytene stage of spermatocyte 1, the segments of the 2 Y chromosomes, fluorescent with quinacrine mustard, were always found close together. This proximity was also demonstrated by the study of synaptonemal complexes, which showed, in addition, an unusual hypercondensation of the proximal segment of bivalent 14, adjacent to the translocated Y chromosome. This allows us to propose that this hypercondensation might correspond to an inactivation of the translocated autosome, which could be responsible of the degeneration of the germ cells.
在一名无精子症男性中观察到一种不平衡易位46,XY,-14,+der(14)t(Y;14)(q11;p11)，其精子发生减少且无精子形成。在初级精母细胞的粗线期，两条用喹吖因氮芥染色呈荧光的Y染色体片段总是紧密相邻。通过联会复合体研究也证实了这种相邻关系，此外还显示与易位Y染色体相邻的二价体14近端片段出现异常超浓缩。这使我们推测这种超浓缩可能对应于易位常染色体的失活，这可能是生殖细胞退化的原因。
