ArticleBasic and clinical andrology2018
Is sperm FISH analysis still useful for Robertsonian translocations? Meiotic analysis for 23 patients and review of the literature.
Article in Basic and clinical andrology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 14 citations in OpenAlex.
- Sperm Meiotic Segregation Analysis of Reciprocal Translocations Carriers: We Have Bigger FISH to Fry.International journal of molecular sciences · 2023Review
- FISH analysis of numerical chromosomal abnormalities in the sperm of robertsonian translocation der(13; 14)(q10;q10) carriers.Frontiers in genetics · 2022Article
- Quantitative analysis of Robertsonian chromosomes inherited by descendants from multiple Rb heterozygotes ofFrontiers in cell and developmental biology · 2022Article
- How much, if anything, do we know about sperm chromosomes of Robertsonian translocation carriers?Cellular and molecular life sciences : CMLS · 2020Review
- Chromosomal segregation in sperm of the Robertsonian translocation (21;22) carrier and its impact on IVF outcome.Journal of assisted reproduction and genetics · 2020Article
- Double chromosomal translocation in an infertile man: one-step FISH meiotic segregation analysis and reproductive prognosis.Journal of assisted reproduction and genetics · 2019Article
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Authors and funding
13 authors at 3 institutions in 1 country.
Funding
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Abstract
backgroundRobertsonian 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?
methodsRetrospective 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).
resultsAlternate 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 (
conclusionsAccording 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.
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