Donti E, Rosetti A, Carloni I, Venti Donti G
Hum Genet. 1987 Feb;75(2):195. doi: 10.1007/BF00591087.
A phenotypically otherwise normal homosexual man with a 46,XY,inv(2)(q21q33) karyotype inherited from his mother is described. The breakpoints were different from those observed in the only other case of familial paracentric inversion of chromosome 2 reported in the literature, but in our case they seem to correspond to constitutive and aphidicolin-induced fragile sites.
本文描述了一名表型正常的同性恋男性，其核型为46,XY,inv(2)(q21q33)，该核型遗传自他的母亲。其染色体断裂点与文献中报道的另一例家族性2号染色体臂内倒位的断裂点不同，但在我们这个病例中，它们似乎对应于组成型和阿非迪霉素诱导的脆性位点。
