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Lamotte A, Martinez G, Devillard F, et al. Is sperm FISH analysis still useful for Robertsonian translocations? Meiotic analysis for 23 patients and review of the literature. Basic Clin Androl. 2018;28:5doi: 10.1186/s12610-018-0069-z.
Lamotte, A., Martinez, G., Devillard, F., Hograindleur, J. P., Satre, V., Coutton, C., Harbuz, R., Amblard, F., Lespinasse, J., Benchaib, M., Bessonnat, J., Brouillet, S., & Hennebicq, S. (2018). Is sperm FISH analysis still useful for Robertsonian translocations? Meiotic analysis for 23 patients and review of the literature. Basic and clinical andrology, 285. https://doi.org/10.1186/s12610-018-0069-z
Lamotte, Anna, et al. "Is sperm FISH analysis still useful for Robertsonian translocations? Meiotic analysis for 23 patients and review of the literature." Basic and clinical andrology vol. 28 (2018): 5. doi: https://doi.org/10.1186/s12610-018-0069-z
Lamotte A, Martinez G, Devillard F, Hograindleur JP, Satre V, Coutton C, Harbuz R, Amblard F, Lespinasse J, Benchaib M, Bessonnat J, Brouillet S, Hennebicq S. Is sperm FISH analysis still useful for Robertsonian translocations? Meiotic analysis for 23 patients and review of the literature. Basic Clin Androl. 2018 May 07;28:5. doi: 10.1186/s12610-018-0069-z. eCollection 2018. PMID: 29760927; PMCID: PMC5937048.
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Basic Clin Androl. 2018 May 07;28:5. doi: 10.1186/s12610-018-0069-z. eCollection 2018.

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

Basic and clinical andrology

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

Affiliations

  1. CHU de Grenoble, UF de Biologie de la procréation, F-38000 Grenoble, France.
  2. 3Université Grenoble Alpes, F-38000 Grenoble, France.
  3. CHU de Grenoble, UF de Génétique Chromosomique, F-38000 Grenoble, France.
  4. Team 'Genetics Epigenetics and Therapies of Infertility', Institute for Advanced Biosciences INSERM U1209, CNRS UMR5309, F-38000 Grenoble, France.
  5. Service de génétique CH de Chambéry, Chambery, F-38000 France.
  6. 6Centre d'AMP, HFME, CHU de Lyon, Lyon, F-69000 France.

PMID: 29760927 PMCID: PMC5937048 DOI: 10.1186/s12610-018-0069-z

Abstract

BACKGROUND: Robertsonian translocations (RobT) are common structural chromosome rearrangements where carriers display a majority of chromosomally balanced spermatozoa from alternate segregation mode. According to some monotony observed in the rates of balanced segregation, is sperm FISH analysis obsolete for RobT carriers?

METHODS: Retrospective cohort research study on 23 patients analyzed in our center from 2003 to 2017 and compared to the data of 187 patients in literature from 1983 to 2017.Robertsonian translocation carriers were divided in six groups according to the chromosomes involved in the translocation: 9 patients from our center and 107 from literature carrying 45,XY,der(13;14) karyotype, 3 and 35 patients respectively with 45,XY,der(14;21), 5 and 11 patients respectively with 45,XY,der(13;15), 4 and 7 patients respectively with 45,XY,der(14;15), 1 and 4 patients respectively with 45,XY,der(13;22),and 1 and 10 patients respectively with 45,XY,der(14;22).

RESULTS: Alternate segregation mode is predominant in our group of Robertsonian translocation carriers with 73.45% ±8.05 of balanced spermatozoa (min 50.92%; max 89.99%). These results are compliant with the data from literature for all translocations types (

CONCLUSIONS: According to the discrepancies observed between der(13;15) and all the other Rob T carriers, the differences observed among patients presenting normal and abnormal sperm parameters and the input in genetical counselling, sperm FISH does not seem obsolete for these patients. Moreover, it seems important to collect more data for rare RobT.

Keywords: Meiotic segregation ; Preimplantation genetic diagnosis; Robertsonian translocation ; Sperm FISH ; Spermatozoa

Conflict of interest statement

All patients signed inform consent and study was approved by the ethic committee of the University Hospital of Grenoble.Not applicableThe authors declare that they have no competing interests.Springer

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