Simi P, Ceccarelli M, Barachini A, Floridia G, Zuffardi O
Laboratorio di Citogenetica, Universitá di Pisa, Italy.
Hum Genet. 1992 Feb;88(4):482-3. doi: 10.1007/BF00215688.
Carriers of the standard translocation t(11;22) (q23.3;q11.2) produce only one type of unbalanced offspring, a tertiary trisomy resulting into the karyotype 47,XX or XY, +der(22)t(11;22)(q23.3;q11.2), usually derived from the mother. The exception is one single patient 47,XY,t(11;22)(q23.3;q11.2), +der(22)t(11;22) (q23.3;q11.2)pat. We report a second case with the same karyotype, also of paternal origin. Thus, the rare unbalanced offspring of a carrier father (only 5 cases known) may receive a supernumerary der(22), as a consequence of tertiary trisomy, but also as a consequence of nondisjunction at meiosis II of a balanced spermatocyte.
标准易位t(11;22)(q23.3;q11.2)的携带者仅产生一种类型的不平衡后代，即导致核型为47,XX或XY，+der(22)t(11;22)(q23.3;q11.2)的三级三体，通常源自母亲。唯一的例外是一名47,XY,t(11;22)(q23.3;q11.2), +der(22)t(11;22)(q23.3;q11.2)pat的患者。我们报告了第二例具有相同核型的病例，其也源自父亲。因此，携带父亲的罕见不平衡后代（仅已知5例）可能由于三级三体而获得一条额外的der(22)，但也可能是由于平衡精母细胞在减数分裂II期发生不分离所致。
