Literature DB >> 22125161

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

Ruth Mikelsaar1, Mari Nelis, Ants Kurg, Olga Zilina, Paul Korrovits, Ranno Rätsep, Maie Väli.   

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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Year:  2011        PMID： 22125161     DOI： 10.1007/s13353-011-0078-5

Source DB:  PubMed          Journal:  J Appl Genet        ISSN： 1234-1983            Impact factor:   3.240


  22 in total

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4.  Second meiotic nondisjunction of the rearranged chromosome in a familial reciprocal 5/13 translocation.

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8.  Forty-eight new cases with infertility due to balanced chromosomal rearrangements: detailed molecular cytogenetic analysis of the 90 involved breakpoints.

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9.  The polyglutamylated lateral chain of alpha-tubulin plays a key role in flagellar motility.

Authors:  C Gagnon; D White; J Cosson; P Huitorel; B Eddé; E Desbruyères; L Paturle-Lafanechère; L Multigner; D Job; C Cibert
Journal:  J Cell Sci       Date:  1996-06       Impact factor: 5.285

10.  QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data.

Authors:  Stefano Colella; Christopher Yau; Jennifer M Taylor; Ghazala Mirza; Helen Butler; Penny Clouston; Anne S Bassett; Anneke Seller; Christopher C Holmes; Jiannis Ragoussis
Journal:  Nucleic Acids Res       Date:  2007-03-06       Impact factor: 16.971
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2.  Characterization of human chromosomal material exchange with regard to the chromosome translocations using next-generation sequencing data.

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3.  Non-Robertsonian translocations involving chromosomes 13, 14, or 15 in male infertility: 28 cases and a review of the literature.

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4.  Location of Balanced Chromosome-Translocation Breakpoints by Long-Read Sequencing on the Oxford Nanopore Platform.

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Review 5.  A report of nine cases and review of the literature of infertile men carrying balanced translocations involving chromosome 5.

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