Evidence map›Paper›PMID 27980747›Full record

ArticleClinical case reports2016

Mosaic partial pericentromeric trisomy 8 and maternal uniparental disomy in a male patient with autism spectrum disorder.

Dina F Ahram, Danae Stambouli, Aleksandra Syrogianni, Yasser Al-Sarraj, Spyridon Gerou, Hatem El-Shanti, Marios Kambouris

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

Article in Clinical case reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.7field-weighted citation impact, top 17% 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

2 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. 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 5 countries.

Dina F AhramMedical Genetics Center Qatar Biomedical Research Institute Hamad Bin Khalifa University Doha Qatar.
Danae StambouliCytogenomic Medical Laboratory Bucharest Romania.
Aleksandra SyrogianniNursing Division Pediatric Hospital of Athens "Agia Sofia" Athens Greece.
Yasser Al-SarrajMedical Genetics Center Qatar Biomedical Research Institute Hamad Bin Khalifa University Doha Qatar.
Spyridon GerouAnalysis Medical Laboratories Thessaloniki Greece.
Hatem El-ShantiMedical Genetics CenterQatar Biomedical Research InstituteHamad Bin Khalifa UniversityDohaQatar; PediatricsUniversity of Jordan School of MedicineAmmanJordan; PediatricsUniversity of IowaIowa CityIowaUSA.
Marios KambourisPathology-GeneticsSidra Medical and Research CenterDohaQatar; GeneticsYale University School of MedicineNew HavenConnecticutUSA.
Hamad bin Khalifa University · QAClinical Emergency Hospital Bucharest · ROIaso Children’s Hospital · GRYale University · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Various chromosomal anomalies including small supernumerary marker chromosome (sSMC) and Uniparental disomy (UPD) have been described in association with intellectual disability and autism spectrum disorder. Based on our reported findings, we recommend that patients with sSMC(8) be evaluated for autism spectrum disorder (ASD) for early institution of therapy. In the presence of an identifiable sSMC, exploration of UPD is also recommended to further investigate the role of chromosome 8 UPD in ASD.

Indexed as

Autismclinical geneticscopy number variationintellectual disabilityuniparental disomy

Identifiers

PMID27980747
PMCPMC5134130
OpenAlexW2537421892

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.