Evidence map›Paper›PMID 29263838›Full record

ArticleNPJ genomic medicine2017

Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage.

Breanne Dale, Bonnie MacKinnon Modi, Sanne Jilderda, Beth McConnell, Ny Hoang, Pooja Swaroop, Jhoan Falcon, Bhooma Thiruvahindrapuram, Susan Walker, Stephen W Scherer and 3 more

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

Article in NPJ genomic medicine, 2017. 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
–field-weighted citation impact, top 89% 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, 3 citations in OpenAlex.

  1. Review
  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

13 authors at 3 institutions in 1 country.

Breanne DaleAutism Research Unit, The Hospital for Sick Children, Toronto, ON Canada.ORCID 0000-0001-5034-7457
Bonnie MacKinnon ModiAutism Research Unit, The Hospital for Sick Children, Toronto, ON Canada.
Sanne JilderdaAutism Research Unit, The Hospital for Sick Children, Toronto, ON Canada.
Beth McConnellAutism Research Unit, The Hospital for Sick Children, Toronto, ON Canada.
Ny HoangAutism Research Unit, The Hospital for Sick Children, Toronto, ON Canada.
Pooja SwaroopAutism Research Unit, The Hospital for Sick Children, Toronto, ON Canada.
Jhoan FalconAutism Research Unit, The Hospital for Sick Children, Toronto, ON Canada.
Bhooma ThiruvahindrapuramThe Centre for Applied Genomics, Hospital for Sick Children and McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, ON Canada.
Susan WalkerThe Centre for Applied Genomics, Hospital for Sick Children and McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, ON Canada.
Stephen W SchererThe Centre for Applied Genomics, Hospital for Sick Children and McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, ON Canada.
D James StavropoulosDepartment of Pathology and Laboratory Medicine, Genome Diagnostics, The Hospital for Sick Children, University of Toronto, Toronto, ON Canada.
Irene E DrmicAutism Research Unit, The Hospital for Sick Children, Toronto, ON Canada.
Melissa T CarterRegional Genetics Program, The Children's Hospital of Eastern Ontario, Ottawa, ON Canada.
Hospital for Sick Children · CAUniversity of Toronto · CAChildren's Hospital of Eastern Ontario · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Duplication of chromosome 22q11.2 (LCR A-D) has been reported at higher frequencies in clinical samples than the general population, but phenotypes vary widely. Triplication (4 copies) is rare, but studying the associated phenotype may provide insight into dosage-sensitivity of the genes in this chromosomal interval. We describe a proband with a triplication, specifically a "double duplication" (two copies per chromosome) of the 22q11.2 region, while his parents and two siblings each have a single duplication (3 copies). The proband had a heart malformation, dysmorphic features, and learning and socialization deficits, whereas the other family members did not. This family illustrates that while duplication of the 22q11.2 may not be sufficient to cause clinically significant neurodevelopmental or health-related phenotypes, triplication of the same region may result in a phenotype characterized by a mild neurodevelopmental disorder, facial dysmorphism, and possibly cardiac anomalies.

Identifiers

PMID29263838
PMCPMC5677976
OpenAlexW2759153061

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.