Most males with Y-autosome translocation are infertile. We describe a cryptozoospermic patient with a Y;3 balanced reciprocal translocation: t(Y;3)(q12;p21). Cytogenetic studies from peripheral blood and fluorescent in situ hybridization (FISH) were performed. An X (DXZ1) centromere, Y centromere (DYZ3) and Y heterocromatic (DYZ1) DNA probes were used to confirm the translocation. The segregation pattern of the translocated chromosomes was analysed by interphase FISH on the carrier spermatozoa. The segregation results showed that 29.7% were normal or balanced sperm cells and 70.3% of the spermatozoa were unbalanced. FISH analysis of spermatozoa can be a very useful technique to evaluate the risk of chromosomally abnormal embryos in translocation carriers. These results are very informative for assisted reproductive techniques. For those translocation carriers whose wives become pregnant, prenatal or preimplantation diagnoses are offered.
|Translated title of the contribution||Sperm analysis in an infertile male with a Y-3 translocation, using fluorescent in situ hybridization|
|Number of pages||5|
|Journal||Magyar Noorvosok Lapja|
|Publication status||Published - Jun 15 2005|
ASJC Scopus subject areas
- Reproductive Medicine
- Obstetrics and Gynaecology