Evidence map›Paper›PMID 26637389›Full record

ArticleJournal of assisted reproduction and genetics2016

Meiotic and pedigree segregation analyses in carriers of t(4;8)(p16;p23.1) differing in localization of breakpoint positions at 4p subband 4p16.3 and 4p16.1.

Alina T Midro, Marcella Zollino, Ewa Wiland, Barbara Panasiuk, Piotr S Iwanowski, Marina Murdolo, Robert Śmigiel, Maria Sąsiadek, Jacek Pilch, Maciej Kurpisz

Open access · hybridAbstract read
In one paragraph

Article in Journal of assisted reproduction and genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
1.0field-weighted citation impact, top 19% 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

1 citing paper in PubMed, 4 citations in OpenAlex.

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4 · The record

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5 · Who and what money

Authors and funding

10 authors at 8 institutions in 2 countries.

Alina T MidroDepartment of Clinical Genetics, Medical University of Białystok, Waszyngtona 13, 15-089, Białystok, PO Box 22, Poland. midro@umb.edu.pl.
Marcella ZollinoDepartment of Medical Genetics, Università Cattolica Sacro Cuore, Rome, Italy.
Ewa WilandDepartment of Reproductive Biology and Stem Cells, Institute of Human Genetics, Polish Academy of Sciences, Strzeszyńska 32, 60-479, Poznań, Poland.
Barbara PanasiukDepartment of Clinical Genetics, Medical University of Białystok, Waszyngtona 13, 15-089, Białystok, PO Box 22, Poland.
Piotr S IwanowskiDepartment of Clinical Genetics, Medical University of Białystok, Waszyngtona 13, 15-089, Białystok, PO Box 22, Poland.
Marina MurdoloDepartment of Medical Genetics, Università Cattolica Sacro Cuore, Rome, Italy.
Robert ŚmigielDepartment of Genetics, Medical University of Wrocław, Wrocław, Poland.
Maria SąsiadekDepartment of Genetics, Medical University of Wrocław, Wrocław, Poland.
Jacek PilchDepartment of Child Neurology, Medical University of Silesia, Katowice, Poland.
Maciej KurpiszDepartment of Reproductive Biology and Stem Cells, Institute of Human Genetics, Polish Academy of Sciences, Strzeszyńska 32, 60-479, Poznań, Poland. kurpimac@man.poznan.pl.
Medical University of Warsaw · PLUniversità Cattolica del Sacro Cuore · ITInstitute of Human Genetics · PLMedical University of Białystok · PLMedical University of Silesia · PLPolish Academy of Sciences · PLUniversity of Wrocław · PLWroclaw Medical University · PL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeThe purpose of this study was to compare meiotic segregation in sperm cells from two carriers with t(4;8)(p16;p23.1) reciprocal chromosome translocations (RCTs), differing in localization of the breakpoint positions at the 4p subband-namely, 4p16.3 (carrier 1) and 4p16.1 (carrier 2)-and to compare data of the pedigree analyses performed by direct method.

methodsThree-color fluorescent in situ hybridization (FISH) on sperm cells and FISH mapping for the evaluation of the breakpoint positions, data from pedigrees, and direct segregation analysis of the pedigrees were performed.

resultsSimilar proportions of normal/balanced and unbalanced sperm cells were found in both carriers. The most common was an alternate type of segregation (about 52 % and about 48 %, respectively). Unbalanced adjacent I and adjacent II karyotypes were found in similar proportions about 15 %. The direct segregation analysis (following Stengel-Rutkowski) of the pedigree of carriers of t(4;8)(p16.1;p23.1) was performed and results were compared with the data of the pedigree segregation analysis obtained earlier through the indirect method. The probability of live-born progeny with unbalanced karyotype for carriers of t(4;8)(p16.1;p23.1) was moderately high at 18.8 %-comparable to the value obtained using the indirect method for the same carriership, which was 12 %. This was, however, markedly lower than the value of 41.2 % obtained through the pedigree segregation indirect analysis estimated for carriers of t(4;8)(p16.3;p23.1), perhaps due to the unique composition of genes present within the 4p16.1-4p 16.3 region.

conclusionsRevealed differences in pedigree segregation analysis did not correspond to the very similar profile of meiotic segregation patterns presented by carrier 1 and carrier 2. Most probably, such discordances may be due to differences in embryo survival rates arising from different genetic backgrounds.

Indexed as

AdultChromosome BreakpointsChromosome SegregationChromosomes, Human, Pair 4FemaleGenetic CounselingHeterozygoteHumansIn Situ Hybridization, FluorescenceKaryotypingMaleMeiosisPedigreeSpermatozoaTranslocation, GeneticTrisomyFISH mappingGenetic counselingMeiotic segregation patternPedigree segregation analysisReciprocal chromosome translocation

Identifiers

PMID26637389
PMCPMC4759004
OpenAlexW2261162537

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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 OpenQuestion graph.