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FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Chromosomal translocation 3;22 in an infertile man
J L Quintana de la Rosa1, G Gallegos Avila, R García Cavazos
1Department of Urology, POVISA Medical Center, Vigo, Spain. jlrq@yahoo.com
Fertility and Sterility
|June 1, 2001
Summary
This case report details a 45-year-old man with primary infertility and a rare chromosomal translocation 3;22. This finding is significant as it
Area of Science:
- Human Genetics
- Reproductive Medicine
- Cytogenetics
Background:
- Primary infertility affects numerous couples worldwide, with male factor contributing significantly.
- Chromosomal abnormalities are a known cause of male infertility, but often present with other clinical signs.
- Translocations can disrupt gene function and impact spermatogenesis.
Observation:
- A 45-year-old male presented with 13 years of primary infertility.
- Physical examination revealed a normal phenotype.
- Semen analysis demonstrated severe oligoasthenoteratospermia.
Findings:
- Lymphocytic karyotyping identified a reciprocal translocation between chromosomes 3 and 22 (t(3;22)).
- Electron microscopy of sperm revealed a structural defect: absence of the central microtubule pair and peripheral doublets in the axoneme.
- This is the first reported case of male infertility solely attributed to t(3;22) without other phenotypic abnormalities.
Implications:
- The t(3;22) translocation may directly impair sperm structure and function, leading to infertility.
- This case expands the known spectrum of chromosomal abnormalities associated with male infertility.
- Further research is warranted to understand the precise mechanisms by which t(3;22) affects male fertility and to explore potential diagnostic or therapeutic avenues.
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