Evidence map›Paper›PMID 32793859›Full record

ArticleAME case reports2020

9q34 & 16p13 chromosome duplications in autism.

Simon E Carlo, Maria T Martinez-Baladejo, Alberto Santiago-Cornier, Norma Arciniegas-Medina

Open access · diamondAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in AME case reports, 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
0.2field-weighted citation impact, top 40% 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. 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

4 authors at 2 institutions in 1 country.

Simon E CarloDepartment of Biochemistry, Ponce Health Sciences University, Ponce.
Maria T Martinez-BaladejoDepartment of Biochemistry, Ponce Health Sciences University, Ponce.
Alberto Santiago-CornierDepartment of Medicine, Ponce Health Sciences University, Ponce.
Norma Arciniegas-MedinaPrivate Practice, Cabo Rojo, Ponce.
Ponce Health Sciences University · PRUniversity of Puerto Rico at Ponce · PR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Epigenetic mechanisms, genetic factors, and environment influence the diversity of phenotypes developed in various diseases. Duplications in several chromosomes are well characterized in the scientific literature, but partial duplications, in some cases, present with milder forms of a disease and are yet to be understood. Fortunately, the identification of genetic diseases has now become more feasible due to several cytogenetic techniques such as microarray analysis and karyotyping. With these tools, together with other laboratory results and clinical examination, we are able to report the first case in the medical literature of double partial trisomy of chromosome 9q34 and 16p13.

Indexed as

chromosome 16 duplicationChromosome duplicationgenetickaryotypingmicroarraytrisomy 9 syndrome

Identifiers

PMID32793859
PMCPMC7392853
OpenAlexW3025961859

What OpenQuestion holds

Textmetadata
Read underepoch 390

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.