Pericentromeric inversion of the heterochromatic region of chromosome 9 has been reported in almost 4% of the cases of male infertility.
Objective: Determining the karyotype from an infertile couple scheduled to perform IVF.
Materials and methods: Slides with metaphasic chromosomes were GTG-banded according to standard protocol for cytogenetic analysis (karyotype). FISH analysis inverted DAPI (4′-6-diamidino-2-phenylindole) staining was used to confirm the anomaly in chromosome structure.
Results: The karyotype revealed modification of the heterochromatic region of both chromosome 9 in the male partner. The karyotype for female partner was normal. In case of male partner we suspected the pericentromeric inversion of the heterochromatic region of the long arm (q) of chromosome 9. Using Inverted-DAPI staining we confirmed the inversion on both chromosomes.
Conclusion: Karyotyping followed by FISH is useful to select appropriate couples to improve the success rate of IVF.
Further investigation of the hormonal profile and seminal liquid analyses for male partner will show the involvement of the chromosomal abnormality in the hypothalamicpituitarytesticular axis.
27 Apr - 01 May 2013
European Society of Endocrinology