title: Balanced reciprocal translocation t(5;13)(q33;q12) and 9q31.1 microduplication in a man suffering from infertility and pollinosis.
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.
authors: Department of Human Biology and Genetics, Institute of General and Molecular Pathology, University of Tartu, Ravila 19, Tartu, Estonia. ruth.mikelsaar@ut.ee
authors: Ruth
authors: R
authors: Mikelsaar
authors: Mari
authors: M
authors: Nelis
authors: Ants
authors: A
authors: Kurg
authors: Olga
authors: O
authors: Zilina
authors: Paul
authors: P
authors: Korrovits
authors: Ranno
authors: R
authors: Rätsep
authors: Maie
authors: M
authors: Väli
mesh_terms: D059786:Abnormal Karyotype; D000328:Adult; D058674:Chromosome Duplication; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D042822:Genomic Instability; D057895:Haploinsufficiency; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D040582:Inheritance Patterns; D008297:Male; D020641:Polymorphism, Single Nucleotide; D006255:Rhinitis, Allergic, Seasonal / Q000235:genetics*; D013076:Sperm Count; D013081:Sperm Motility; D013094:Spermatozoa / Q000473:pathology; D014178:Translocation, Genetic; D014404:Tubulin / Q000235:genetics
chemical_list: D014404:Tubulin