Balanced transmission of a paternal complex chromosomal rearrangement involving chromosomes 2, 3, and 18.

摘要

Complex chromosomal rearrangements (CCRs) are structural rearrangements involving at least three chromosomes or three breakpoints [Pai et al., 1980]. At present, more than 130 cases are reported [Goumy et al., 2006]. CCRs can be balanced or unbalanced, associated with normal or abnormal phenotype. Familial CCRs represent 1/3 of the cases. The majority of balanced CCR are carried by females. Most often, CCRs induce reduction of male fertility, disturbing gametogenesis, or spontaneous abortions. Few fertile male carriers of a CCR have been described [Cai et al., 2001; Grasshoff et al., 2003]. They were ascertained through abnormal offspring.