ArticleEuropean journal of human genetics : EJHG2009
Breakpoint mapping and complete analysis of meiotic segregation patterns in three men heterozygous for paracentric inversions.
Article in European journal of human genetics : EJHG, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Meiotic determinants of unbalanced gametogenesis in chromosomal inversion carriers.Journal of human genetics · 2026Article
- Sperm Meiotic Segregation Analysis of Reciprocal Translocations Carriers: We Have Bigger FISH to Fry.International journal of molecular sciences · 2023Review
- Fertility problems in males carrying an inversion of chromosome 10.Open medicine (Warsaw, Poland) · 2021Article
- Molecular, genetic and evolutionary analysis of a paracentric inversion in Arabidopsis thaliana.The Plant journal : for cell and molecular biology · 2016Article
- Fitness consequences of polymorphic inversions in the zebra finch genome.Genome biology · 2016Article
- The Largest Paracentric Inversion, the Highest Rate of Recombinant Spermatozoa. Case Report: 46,XY, inv(2)(q21.2q37.3) and Literature Review.Balkan journal of medical genetics : BJMG · 2014Article
- Microdeletion and microduplication syndromes.The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society · 2012Review
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Authors and funding
13 authors.
Funding
Abstract
Paracentric inversions (PAIs) are structural chromosomal rearrangements generally considered to be harmless. To date, only a few studies have been performed concerning the meiotic segregation of these rearrangements, using either the human-hamster fertilization system or fluorescence in situ hybridization (FISH) with centromeric or telomeric DNA probes. To improve the assessment of imbalances in PAI, we present a new strategy based on FISH assay using multiple bacterial artificial chromosome probes, which allow a precise localization of chromosome break points and the identification of all meiotic products in human sperm. Sperm samples of three cases with PAI were investigated: an inv(5)(q13.2q33.1), an inv(9)(q21.2q34.13) and an inv(14)(q23.2q32.13). The frequencies of spermatozoa with inverted chromosomes were 44.7% in inv(5), 42.7% in inv(9) and 46.7% in inv(14). The global incidences of unbalanced complements were 9.7, 12.6 and 3.7% in inv(5), inv(9) and inv(14), respectively. This report is the first study providing a detailed description of meiotic segregation patterns in human sperm by using a sperm FISH approach. This study demonstrates that the detailed analysis of segregation in PAI may provide important data for both genetic analysis and counseling of inversion carriers.
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