Genetic Causes of Infertility: Chromosomal Abnormalities in Couples with Reproductive Failure

L. Bohiltea, V. Radoi, R. Bohiltea

Abstract: This study analyses the prevalence of karyotype changes and Yq11 microdeletions among infertile couples referred for assisted reproduction techniques. Each partner of 517 infertile couples referred Life Memorial Hospital was screened for karyotype changes by GTG-banding technique on peripheral lymphocytes. No subject presented with obvious phenotype of chromosomal rearrangement. All the oligo/azoospermic men with normal karyotype were further investigated by PCR for Yq11 micro-deletions. 11 out of 517 couples (2.12%) had one partner carrying a chromosomal change, 1 out of 24 (4.16%) men showed Yq11 microdeletions and 1 showed SRY translocation on the short arm of the chromosome X.(4,16%). The chromosomal rearrangements were 11 (1.06%) translocations, 3 (0.29%) 47,XXY, 1 (0,09%) 45,X0, 2 (0.19%) marker chromosomes, 2 (0.19%) inversions. Genetic testing and genetic counseling in infertile couples attending assisted reproduction are important to recognize the cause of infertility, but also to evaluate the reproductive risk of couples with genetic abnormalities that may be transmitted to offspring.
Keywords: Infertility, genetic, chromosome, karyotype