Gupta Neelam, Dalvi Rupa, Koppaka Neeraja, Mandava Swarna
Division of Cytogenetics, SRL Diagnostics, Mumbai, Maharashtra, India.
J Hum Reprod Sci. 2019 Jan-Mar;12(1):72-74. doi: 10.4103/jhrs.JHRS_122_18.
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.
双相互易位和三平衡相互易位等多种染色体重排现象在表型正常的个体中极为罕见。对一名不孕女性进行了分辨率为500条带的染色体分析。她的核型在所有中期相中均显示为46,XX, t(1;3) (q44;p11), t(2;14) (q11.2;q13), t(9;11) (p22;p15)模式。据我们所知,这是首例不孕女性发生三平衡相互易位的病例。