Evidence map›Paper›PMID 31258897›Full record

ArticleBiomedical reports2019

Autism spectrum disorder, anxiety and severe depression in a male patient with deletion and duplication in the 21q22.3 region: A case report.

Sandro Orru, Ioannis Papoulidis, Elisavet Siomou, Dimitrios T Papadimitriou, Sotirios Sotiriou, Petros Nikolaidis, Makarios Eleftheriades, Evaggelos Papanikolaou, Loretta Thomaidis, Emmanouil Manolakos

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

Article in Biomedical reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.3field-weighted citation impact, top 41% 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

3 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Article
  3. Psychiatric Disorders and Distal 21q Deletion-A Case Report.International journal of environmental research and public health · 2020
    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

10 authors at 6 institutions in 2 countries.

Sandro OrruDepartment of Medical Genetics, University of Cagliari, Binaghi Hospital, I-09126 Cagliari, Italy.
Ioannis PapoulidisATG P.C., Clinical Laboratory Genetics, Athens 11528, Greece.
Elisavet SiomouATG P.C., Clinical Laboratory Genetics, Athens 11528, Greece.
Dimitrios T PapadimitriouDepartment of Pediatric Endocrinology and Diabetes, Athens Medical Center, Athens 15125, Greece.
Sotirios SotiriouDepartment of Clinical Embryology, Larissa Medical School, University of Thessaly, Larissa 41334, Greece.
Petros NikolaidisEmbryoiatriki-genetiki Ltd., Athens 15125, Greece.
Makarios EleftheriadesSecond Department of Obstetrics and Gynecology, Aretaieio Hospital, Medical School, National and Kapodistrian University of Athens, Athens 11528, Greece.
Evaggelos PapanikolaouThird Department in Obstetrics and Gynecology, Ippokratio Hospital, Aristotle University of Thessaloniki, Thessaloniki 54642, Greece.
Loretta ThomaidisDevelopmental Assessment Unit, Second Department of Pediatrics, 'P. & A. Kyriakou' Children's Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens 11527, Greece.
Emmanouil ManolakosDepartment of Medical Genetics, University of Cagliari, Binaghi Hospital, I-09126 Cagliari, Italy.
Hellenic Oncology Research Group · GRNational and Kapodistrian University of Athens · GRUniversity of Cagliari · ITAristotle University of Thessaloniki · GRAthens Medical Center · GRUniversity of Thessaly · GR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In this report, a patient carrying a 650 kb deletion and a 759 kb duplication of chromosomal 21q22.3 region was described. Facial dysmorphic features, hypotonia, short stature, learning impairment, autism spectrum disorder, anxiety and depression were observed clinical characteristics. Mentioned copy number variants were the shortest in length reported so far. The current study hypothesized that the presence of a susceptibility locus for autism spectrum disorder associated with depression and anxiety may be located in a 200 kb region between the

Indexed as

21q22.3anxietyautism spectrum disorderdepression

Identifiers

PMID31258897
PMCPMC6566442
OpenAlexW2945488741

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.