Balanced Reciprocal Translocation: Multiple Chromosome Rearrangements in an Infertile Female

摘要

Double reciprocal translocations and triple-balanced reciprocal translocations multiple chromosome rearrangements are very rare events in the phenotypically normal individuals. Chromosome analysis with 500-band resolution was performed and analyzed in an infertile woman. Her karyotype revealed 46,XX, t(1;3) (q44;p11), t(2;14) (q11.2;q13), t(9;11) (p22;p15) pattern in all the metaphases. To the best of our knowledge, this is the first case of triple-balanced reciprocal translocations in an infertile woman.