Evidence mapPaperPMID 32399795Full record

ReviewJournal of assisted reproduction and genetics2020

Small supernumerary marker chromosomes (sSMC) and male infertility: characterization of five new cases, review of the literature, and perspectives.

Wafa Slimani, Afef Jelloul, Ahmed Al-Rikabi, Amira Sallem, Yosra Hasni, Salma Chachia, Adel Ernez, Anouar Chaieb, Mohamed Bibi, Thomas Liehr and 2 more

Open access · greenAbstract readCase ReportsReview
In one paragraph

Review in Journal of assisted reproduction and genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.4field-weighted citation impact, top 16% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed, 9 citations in OpenAlex.

  1. Article
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  3. Review
  4. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors at 3 institutions in 1 country.

Wafa SlimaniDepartment of Cytogenetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia.ORCID https://orcid.org/0000-0003-1312-1090
Afef JelloulDepartment of Cytogenetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia.
Ahmed Al-RikabiInstitute of Human Genetics, Jena, Germany.
Amira SallemDepartment of Cytogenetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia.
Yosra HasniDepartment of Endocrinology-Diabetology, Farhat Hached University Hospital, Sousse, Tunisia.
Salma ChachiaDepartment of Obstetrics and Gynecology, Farhat Hached University Hospital, Sousse, Tunisia.
Adel ErnezPrivate Gynecologist, Sousse, Tunisia.
Anouar ChaiebDepartment of Obstetrics and Gynecology, Farhat Hached University Hospital, Sousse, Tunisia.
Mohamed BibiDepartment of Obstetrics and Gynecology, Farhat Hached University Hospital, Sousse, Tunisia.
Thomas LiehrInstitute of Human Genetics, Jena, Germany.
Ali SaadDepartment of Cytogenetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia.
Soumaya Mougou-ZerelliDepartment of Cytogenetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, Tunisia. mougousoumaya@yahoo.fr.
Hôpital Farhat Hached · TNUniversity of Monastir · TNUniversity of Sousse · TN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeTo characterize small supernumerary marker chromosomes (sSMC) in infertile males RESEARCH QUESTION: Are molecular cytogenetic methods still relevant for the identification and characterization of sSMC in the era of next-generation sequencing?

methodsIn this paper, we report five males with oligoasthenozoospermia or azoospermia with a history of recurrent pregnancy loss in partnership in four cases. R-banding karyotyping and fluorescence in situ hybridization (FISH) analysis were performed and showed sSMC in all five cases. Microdissection and reverse-FISH were performed in one case.

resultsOne sSMC, each, was derived from chromosome 15 and an X-chromosome; two sSMC were derivatives of chromosome 22. The fifth sSMC was a ring chromosome 4 complemented by a deletion of the same region 4p14 to 4p16.1 in one of the normal chromosomes 4. All markers were mosaics except one of sSMC(22).

conclusionThrough this study, we emphasize the necessity of a proper combination of high-throughput techniques with conventional cytogenetic and FISH methods. This could provide a personalized diagnostic and accurate results for the patients suffering from infertility or RPL. We also highlight FISH analyses, which are essential tools for detecting sSMC in infertile patients. In fact, despite its entire composition of heterochromatin, sSMC can have effects on spermatogenesis by producing mechanical perturbations during meiosis and increasing meiotic nondisjunction rate. This would contribute to understand the exact chromosomal mechanism disrupting the natural and the assisted reproduction leading to offer a personalized support.

Indexed as

Chromosomes, HumanGenetic MarkersAbortion, HabitualAdultAzoospermiaChromosome BandingComparative Genomic HybridizationFemaleHumansInfertility, MaleIn Situ Hybridization, FluorescenceMaleMiddle AgedGenetic MarkersAneuploidyFluorescence in situ hybridization (FISH)InfertilitySmall supernumerary marker chromosomes (sSMC)Spermatogenesis

Identifiers

PMID32399795
PMCPMC7376793
OpenAlexW3025807488

What Socratic holds

Textmetadata
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.