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J Hum Reprod Sci. 2019 Jan-Mar;12(1):72-74. doi: 10.4103/jhrs.JHRS_122_18.

Balanced Reciprocal Translocation: Multiple Chromosome Rearrangements in an Infertile Female.

Journal of human reproductive sciences

Neelam Gupta, Rupa Dalvi, Neeraja Koppaka, Swarna Mandava

Affiliations

  1. Division of Cytogenetics, SRL Diagnostics, Mumbai, Maharashtra, India.

PMID: 31007471 PMCID: PMC6472205 DOI: 10.4103/jhrs.JHRS_122_18

Abstract

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.

Keywords: Balanced reciprocal translocation; chromosome analysis; phenotype

Conflict of interest statement

There are no conflicts of interest.

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