An uncommon complementary isochromosome of 46,XY, i(9)(p10),i(9)(q10) in an infertile oligoasthenoteratozoospermic man

Fertil Steril. 2011 Jan;95(1):290.e5-8. doi: 10.1016/j.fertnstert.2010.05.028. Epub 2010 Jun 20.

Abstract

Objective: To report a rare case of male infertility associated with oligoasthenoteratozoospermia and complementary isochromosome 46 XY, i(9)(p10),i(9)(q10).

Design: Case report.

Setting: Reference hospital.

Patient(s): Infertile oligoastenozoospermic man with complementary isochromosome 46,XY, i(9)(p10),i(9)(q10).

Intervention(s): Peripheral blood lymphocytes obtained for karyotyping, and florescence in situ hybridization (FISH) analysis for gonadal mosaicism in ejaculated spermatozoa.

Main outcome measure(s): Physical examination, semen analysis, GBG banding, and FISH procedure.

Result(s): The semen analysis revealed oligoasthenoteratozoospermia. The lymphocytic karyotype detected a complementary isochromosome 46,XY, i(9)(p10),i(9)(q10), and the FISH procedure showed abnormal sperm.

Conclusion(s): This the first report of oligoasthenoteratozoospermia associated with complementary isochromosome 46,XY, i(9)(p10),i(9)(q10).

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Asthenozoospermia / genetics*
  • Chromosome Banding
  • Chromosomes, Human, Pair 9*
  • Female
  • Humans
  • Infertility, Male / genetics*
  • Isochromosomes*
  • Male
  • Oligospermia / genetics*
  • Translocation, Genetic / genetics