A new case of familial paracentric inversion of chromosome 2.
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.
D000328:Adult; D002871:Chromosome Banding; D043283:Chromosome Fragile Sites; D002873:Chromosome Fragility; D007446:Chromosome Inversion; D002889:Chromosomes, Human, Pair 2; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male