Evidence map›Paper›PMID 33816069›Full record

ArticleBalkan journal of medical genetics : BJMG2020

Array-comparative Genomic Hybridization Results in Clinically Affected Cases with Apparently Balanced Chromosomal Rearrangements.

N B Satkin, B Karaman, S Ergin, H Kayserili, I H Kalelioglu, R Has, A Yuksel, S Basaran

Open access · goldAbstract read
In one paragraph

Article in Balkan journal of medical genetics : BJMG, 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
–field-weighted citation impact, top 81% 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, 2 citations in OpenAlex.

  1. Review
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

8 authors at 1 institution in 1 country.

N B SatkinDepartment of Medical Genetics, Istanbul Faculty of Medicine, Istanbul, Turkey.
B KaramanDepartment of Medical Genetics, Istanbul Faculty of Medicine, Istanbul, Turkey.
S ErginDepartment of Medical Genetics, Istanbul Faculty of Medicine, Istanbul, Turkey.
H KayseriliDepartment of Medical Genetics, Istanbul Faculty of Medicine, Istanbul, Turkey.
I H KaleliogluDepartment of Medical Genetics, Istanbul Faculty of Medicine, Istanbul, Turkey.
R HasDepartment of Medical Genetics, Istanbul Faculty of Medicine, Istanbul, Turkey.
A YukselDepartment of Medical Genetics, Istanbul Faculty of Medicine, Istanbul, Turkey.
S BasaranDepartment of Medical Genetics, Istanbul Faculty of Medicine, Istanbul, Turkey.
Istanbul University · TR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Carriers of apparently balanced chromosomal rearrangements (ABCRs) have a 2-3-fold higher risk of carrying an abnormal phenotype, when compared to the average population. Apparently balanced chromosomal rearrangements can be imbalanced at the submicroscopic level, and changes in the gene structure, formation of a new chimeric gene, gain or loss of function of the genes and altered imprinting pattern may also affect the phenotype. Chromosomal microarray (CMA) is an efficient tool to detect submicroscopic imbalances at the breakpoints as well as in the whole genome. We aimed to determine the effectiveness of array-comparative genomic hybridization (aCGH) application in phenotypically affected cases with ABCRs at a single center from Turkey. Thirty-four affected cases (13 prenatal, 21 postnatal) carrying ABCRs were investigated with CMA. In postnatal series, ABCRs were familial in 7 and

Indexed as

Apparently balanced structural chromosomal abnormalities (ABCRs)Array-comparative genomic hybridization (aCGH)Chromosomal microarray (CMA)Cryptic genomic imbalancesFetal ultrasound findings

Identifiers

PMID33816069
PMCPMC8009573
OpenAlexW3145624970

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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Registered trials

None linked

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.