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

Basic and Clinical Andrology
Anna LamotteSylviane Hennebicq

Abstract

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? 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). 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 (p > 0.05) and are consistent among th...Continue Reading

References

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Jan 1, 2013·Basic and Clinical Andrology·Guillaume MartinezSylviane Hennebicq

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Citations

Dec 14, 2019·Journal of Assisted Reproduction and Genetics·Sanja VujisicRomana Dmitrovic
Mar 10, 2019·Journal of Assisted Reproduction and Genetics·Lucie PierronAlexandre Rouen
Jun 10, 2020·Cellular and Molecular Life Sciences : CMLS·Ewa WilandMaciej Kurpisz

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Methods Mentioned

BETA
chromosomal aberration
biopsy

Software Mentioned

Metafer Slide Scanning System
HOST
MetaCyte

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