Abstract
We describe the first case of two chromosomal abnormalities, balanced reciprocal translocation t(5;13)(q33;q12.1) and a microduplication in the region 9q31.1, in a man suffering from infertility and pollinosis. In the region 13q12.1 is located the TUBA3C (tubulin, alpha 3c) gene, which plays an important dynamic role in the motility of flagella. This case might support the opinion that haploinsufficiency of the TUBA3C gene could be the cause of sperm immotility and abnormal sperm morphology, resulting in infertility in the patient. Single-nucleotide polymorphism (SNP) array analysis revealed a novel 9q31.1 microduplication inherited from both parents, which contributes to the genomic instability.
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This work was partly supported by target financings SF0180096s08 and SF0180027s10 from the Estonian Ministry of Science and Education.
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Mikelsaar, R., Nelis, M., Kurg, A. et al. Balanced reciprocal translocation t(5;13)(q33;q12) and 9q31.1 microduplication in a man suffering from infertility and pollinosis. J Appl Genetics 53, 93–97 (2012). https://doi.org/10.1007/s13353-011-0078-5
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DOI: https://doi.org/10.1007/s13353-011-0078-5