Indian Journal of Genetics and Plant Breeding (The)
SCOPUSWeb of Science
  • Year: 2018
  • Volume: 78
  • Issue: 4

Pericentric inversion of chromosome 7 in human associated with recurrent ICSI failure: A case report

  • Author:
  • Ruchi Shah, Sonali Verma, Amrita Bhat, Ghulam Rasool Bhat, Kosheen Kamal, Rima Dada1, Rakesh Kumar
  • Total Page Count: 4
  • Page Number: 515 to 518

1Laboratory for Molecular Reproduction and Genetics, Departmentof Anatomy, All India Institute of Medical Science (AIIMS), New Delhi, 110 029

School of Biotechnology, SMVDU, Katra, 182 320, J&K

*Corresponding author's e-mail: kumar.rakesh@smvdu.ac.in

Online published on 18 January, 2019.

Abstract

Assisted reproductive techniques is specially a boon for severe male factor infertility with non-obstructive azoospermia (NOAZ) and severe oligospermia (<5 million/ml). To study the unusual pericentric inversion in a recurrent ICSI failure case, cytogenetic analysis was done from peripheral blood lymphocytes. Semen analysis revealed that the man had Oligoasthenoteratozoospermia with sperm count of 0.9 million/ml. A karyogram revealed pericentromeric inversion of Chromosome 7. It could be accommodated on models that location of the breakpoint harbours critical genes for spermatogenesis (swm, swm2 and STAG3). Pericentromeric Inversion for chromosome 7 is a rare finding. It may be the etiopathogenic for partial spermatogenetic arrest and recurrent ICSI failure. The children born to such couples must also be analyzed and kept under observation for any clinical indications.

Keywords

ICSI, inversion, oligoasthenoteratozoo-spermia, primary infertility, swm, CFTR