Literature DB >> 16917122

Rare Robertsonian translocations and meiotic behaviour: sperm FISH analysis of t(13;15) and t(14;15) translocations: a case report.

K Moradkhani1, J Puechberty, S Bhatt, J Lespinasse, P Vago, G Lefort, P Sarda, S Hamamah, F Pellestor.   

Abstract

t(13;15) and t(14;15) are two rare Robertsonian translocations. Meiotic segregation was studied in four males heterozygous for the rare Robertsonian translocations t(13;15) and t(14;15). Both locus-specific probes (LSPs) and whole chromosome painting (WCP) probes, specific to chromosomes 13, 14 and 15, were used in this study. The number of spermatozoa scored for each carrier ranged from 891 to 5000. The frequencies of normal and balanced sperm resulting from the alternate mode of segregation ranged from 77.6 to 92.8%, confirming the prevalence of alternate segregation over other segregation modes in all Robertsonian translocations. The incidences of unbalanced complements ranged from 6.7 to 20.4%, with a significant excess of disomy rates over the complementary frequencies of nullisomy. This variability might reflect differences in the location of breakpoints in translocated chromosomes, leading to the variable production of unbalanced gametes and the variable alterations of semen parameters in Robertsonian translocation carriers.

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Year:  2006        PMID: 16917122     DOI: 10.1093/humrep/del314

Source DB:  PubMed          Journal:  Hum Reprod        ISSN: 0268-1161            Impact factor:   6.918


  9 in total

1.  Preconceptional diagnosis for Robertsonian translocation as an alternative to preimplantation genetic diagnosis in two situations: a pilot study.

Authors:  D Molina Gomes; I Hammoud; M Bailly; M Bergere; R Wainer; J Selva; F Vialard
Journal:  J Assist Reprod Genet       Date:  2009-01-28       Impact factor: 3.412

2.  Double chromosomal translocation in an infertile man: one-step FISH meiotic segregation analysis and reproductive prognosis.

Authors:  Lucie Pierron; Alexandra Irrmann; Aliénor de Chalus; Adrien Bloch; Solveig Heide; Eli Rogers; Nathalie Lédée; Laura Prat-Ellenberg; Aurélie Coussement; Jean-Michel Dupont; Nino Guy Cassuto; Jean-Pierre Siffroi; Alexandre Rouen
Journal:  J Assist Reprod Genet       Date:  2019-03-08       Impact factor: 3.412

3.  A novel male 2;4;14 complex chromosomal translocation with normal semen parameters but 100% embryonic aneuploidy.

Authors:  Jade Mas; Reem Sabouni; Silvina Bocca
Journal:  J Assist Reprod Genet       Date:  2018-01-29       Impact factor: 3.412

4.  High prevalence of genetic abnormalities in Middle Eastern patients with idiopathic non-obstructive azoospermia.

Authors:  Marwan Alhalabi; Mazen Kenj; Fawza Monem; Zaina Mahayri; Ghalia Abou Alchamat; Ammar Madania
Journal:  J Assist Reprod Genet       Date:  2013-04-25       Impact factor: 3.412

Review 5.  Cytogenetic determinants of male fertility.

Authors:  R H Martin
Journal:  Hum Reprod Update       Date:  2008-06-04       Impact factor: 15.610

6.  Aneuploidy in spermatids of Robertsonian (Rb) chromosome heterozygous mice.

Authors:  Catalina Manieu; Marisel González; Julio López-Fenner; Jesús Page; Eliana Ayarza; Raúl Fernández-Donoso; Soledad Berríos
Journal:  Chromosome Res       Date:  2014-11-11       Impact factor: 5.239

7.  Torticollis in Connection with Spine Phenotype.

Authors:  Ali Al Kaissi; Nabil Nassib; Sami Bouchoucha; Mohammad Shboul; Franz Grill; Susanne Gerit Kircher; Polina Ochirova; Sergey Ryabykh
Journal:  Diagnostics (Basel)       Date:  2022-07-09

8.  Copy number variation and microdeletions of the Y chromosome linked genes and loci across different categories of Indian infertile males.

Authors:  Anju Kumari; Sandeep Kumar Yadav; Man Mohan Misro; Jamal Ahmad; Sher Ali
Journal:  Sci Rep       Date:  2015-12-07       Impact factor: 4.379

9.  Is sperm FISH analysis still useful for Robertsonian translocations? Meiotic analysis for 23 patients and review of the literature.

Authors:  Anna Lamotte; Guillaume Martinez; Françoise Devillard; Jean-Pascal Hograindleur; Véronique Satre; Charles Coutton; Radu Harbuz; Florence Amblard; James Lespinasse; Mehdi Benchaib; Julien Bessonnat; Sophie Brouillet; Sylviane Hennebicq
Journal:  Basic Clin Androl       Date:  2018-05-07
  9 in total

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