Evidence map›Paper›PMID 31301695›Full record

ArticleIranian biomedical journal2020

Characterization of a Rare Mosaicism in Autosomal Translocation of t(5;21) Using Conventional Cytogenetics and FISH Methods

Sadaf Omori Sarabi, Javad Karimzad Hagh, Claudia Behrend, Seyed Behrooz Mohseni, Mitra Ansari Dezfouli, Seyed Khalil Rashidi, Mir Davood Omrani

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In one paragraph

Article in Iranian biomedical journal, 2020. 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
0.4field-weighted citation impact, top 29% 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, 3 citations in OpenAlex.

  1. 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

7 authors at 4 institutions in 2 countries.

Sadaf Omori SarabiParesh Pathobiology and Genetics Laboratory, Tehran, Iran;
Javad Karimzad HaghParesh Pathobiology and Genetics Laboratory, Tehran, Iran;
Claudia BehrendPraxisgem für Medizinische Genetik, Düsseldorf, Germany.
Seyed Behrooz MohseniParesh Pathobiology and Genetics Laboratory, Tehran, Iran;
Mitra Ansari DezfouliDepartment of Neuroscience and Addiction Studies, School of Advanced Technologies in Medicines, Tehran University of Medical Science, Tehran, Iran.
Seyed Khalil RashidiBiotechnology Research Center, Semnan University of Medical Science, Semnan, Iran.
Mir Davood OmraniDepartment of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Science, Tehran, Iran.
Biotechnology Research Center · IRLaboratory of Molecular Genetics · PLShahid Beheshti University of Medical Sciences · IRUniversity of Tehran · IR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Mosaicism of a normal cell population and an unbalanced autosomal chromosome rearrangement is rarely seen. If the abnormal cell line contributes to a minor part of soma, the phenotype is expected to be normal. Case Report: We report a 29-year-old woman who had balance chromosomal translocation of 46,XX,t(5;21) with a two-year-old affected girl, characterized by mental retardation, dystrophia, hearing impartment, and dysphagia. Methods and Results: Cytogenetic investigation revealed a low mosaic unbalanced translocation of 46,XX,t(5;21)/ 46,XX, which was confirmed by fluorescence in situ hybridization analysis. Studying 200 metaphases and interphases of peripheral blood sample revealed 70% partial monosomy of 21q22 and partial trisomy of 5q(35.3) and 30% of normal pattern. Conclusion: In rare cases such as this study, parents with balanced translocation with no phenotypes may lead to a mosaic unbalanced translocation with abnormal phenotypes in offspring, which underscores the need for prenatal karyotyping and genetics counseling.

Indexed as

CytogeneticsIn Situ Hybridization, FluorescenceMosaicismChild, PreschoolChromosomes, Human, Pair 21Chromosomes, Human, Pair 5HumansKaryotypingTranslocation, GeneticPartial monosomy 21qTranslocation t(5,21)Unbalanced autosomal chromosome translocation mosaicism

Identifiers

PMID31301695
PMCPMC6900479
OpenAlexW2986667127

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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.