Balanced reciprocal translocation t(5;13)(q33;q12) and 9q31.1 microduplication in a man suffering from infertility and pollinosis

被引：0
作者：
Ruth Mikelsaar
Mari Nelis
Ants Kurg
Olga Žilina
Paul Korrovits
Ranno Rätsep
Maie Väli
机构：
[1] University of Tartu,Department of Human Biology and Genetics, Institute of General and Molecular Pathology
[2] University of Tartu,Department of Biotechnology, Institute of Molecular and Cell Biology
[3] Estonian Biocentre,Department of Genetic Medicine and Development
[4] University of Geneva Medical School,Department of Physiology
[5] Tartu University Clinics,undefined
[6] Centre of Andrology,undefined
[7] University of Tartu,undefined
[8] Tartu University Hospital,undefined
[9] Women’s Clinic,undefined
来源：
Journal of Applied Genetics | 2012年 / 53卷
关键词：
Balanced reciprocal t(5;13); Male infertility; Microduplication 9q; SNP array analysis;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
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.
引用
收藏
页码：93 / 97
页数：4
相关论文
共 116 条
  • [1] Ballow D(2006) is essential for spermatogonial differentiation Dev Biol 294 161-167
  • [2] Meistrich ML(2007)QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data Nucleic Acids Res 35 2013-2025
  • [3] Matzuk M(2003)Evidence for gene–environment interactions in a linkage study of asthma and smoking exposure J Allergy Clin Immunol 111 840-846
  • [4] Rajkovic A(2003)Balanced translocation t(5;13)(q11;q12) in a woman with malformed child Facta Universitatis Series: Med Biol 10 127-130
  • [5] Colella S(2006)Chromosome abnormalities in one thousand infertile males with nonobstructive sperm disorders Fertil Steril 86 1792-1795
  • [6] Yau C(2001)Segmental duplications: an ‘expanding’ role in genomic instability and disease Nat Rev Genet 2 791-800
  • [7] Taylor JM(1996)The polyglutamylated lateral chain of alpha-tubulin plays a key role in flagellar motility J Cell Sci 109 1545-1553
  • [8] Mirza G(2001)Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men Hum Reprod 16 82-90
  • [9] Butler H(2006)Defective expression of Galpha12 in the testes of azoospermia patients and in the spermatozoa with low motility J Mol Med (Berl) 84 416-424
  • [10] Clouston P(2006)Cytogenetic analyses in infertile men Arch Androl 52 91-95
12345678910