Evidence map›Paper›PMID 36980952›Full record

ArticleGenes2023

Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome.

Marta Smyk, Maciej Geremek, Kamila Ziemkiewicz, Tomasz Gambin, Anna Kutkowska-Kaźmierczak, Katarzyna Kowalczyk, Izabela Plaskota, Barbara Wiśniowiecka-Kowalnik, Magdalena Bartnik-Głaska, Magdalena Niemiec and 12 more

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

Article in Genes, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 2 pooled it
1.4field-weighted citation impact, top 19% 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

8 citing papers in PubMed, 2 syntheses or guidelines pooled it, 9 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Article
  4. Review
  5. Article
  6. Article
  7. Article
  8. Variants inGenes · 2024
    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

22 authors at 5 institutions in 2 countries.

Marta SmykDepartment of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland.ORCID 0000-0002-7959-044X
Maciej GeremekDepartment of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland.ORCID 0000-0002-6484-8751
Kamila ZiemkiewiczDepartment of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland.
Tomasz GambinDepartment of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland.
Anna Kutkowska-KaźmierczakDepartment of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland.ORCID 0000-0001-5295-7363
Katarzyna KowalczykDepartment of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland.ORCID 0000-0002-9867-063X
Izabela PlaskotaDepartment of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland.
Barbara Wiśniowiecka-KowalnikDepartment of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland.ORCID 0000-0001-6533-3090
Magdalena Bartnik-GłaskaDepartment of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland.
Magdalena NiemiecDepartment of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland.ORCID 0000-0002-5485-1607
Dominika GradDepartment of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland.
Małgorzata PiotrowiczDepartment of Genetics, Polish Mother's Memorial Hospital Research Institute, 70-445 Łódź, Poland.
Dorota Gieruszczak-BiałekDepartment of Medical Genetics, Children's Memorial Health Institute, 04730 Warsaw, Poland.
Aleksandra PietrzykDepartment of Genetics and Pathology, Pomeranian Medical University, 70-204 Szczecin, Poland.
T Blaine CrowleyDivision of Human Genetics and 22q and You Center, the Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0000-0002-3272-5458
Victoria GiuntaDivision of Human Genetics and 22q and You Center, the Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Daniel E McGinnDivision of Human Genetics and 22q and You Center, the Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Elaine H ZackaiDivision of Human Genetics and 22q and You Center, the Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Oanh TranDivision of Human Genetics and 22q and You Center, the Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Beverly S EmanuelDivision of Human Genetics and 22q and You Center, the Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0000-0002-9207-6955
Donna M McDonald-McGinnDivision of Human Genetics and 22q and You Center, the Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0000-0003-4077-250X
Beata A NowakowskaDepartment of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland.
Children's Hospital of Philadelphia · USChildren's Memorial Health Institute · PLPolish Mother’s Memorial Hospital Research Institute · PLPomeranian Medical University · PLWarsaw University of Technology · PL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

22q11.2 deletion syndrome (22q11.2DS) is the most common genomic disorder with an extremely broad phenotypic spectrum. The aim of our study was to investigate how often the additional variants in the genome can affect clinical variation among patients with the recurrent deletion. To examine the presence of additional variants affecting the phenotype, we performed microarray in 82 prenatal and 77 postnatal cases and performed exome sequencing in 86 postnatal patients with 22q11.2DS. Within those 159 patients where array was performed, 5 pathogenic and 5 likely pathogenic CNVs were identified outside of the 22q11.2 region. This indicates that in 6.3% cases, additional CNVs most likely contribute to the clinical presentation. Additionally, exome sequencing in 86 patients revealed 3 pathogenic (3.49%) and 5 likely pathogenic (5.81%) SNVs and small CNV. These results show that the extension of diagnostics with genome-wide methods can reveal other clinically relevant changes in patients with 22q11 deletion syndrome.

Indexed as

DiGeorge SyndromeHumansMicroarray AnalysisPhenotype22q11.2DSarrayCNVcopy number variationexome sequencinggenomic disordersingle nucleotide variantSNV

Identifiers

PMID36980952
PMCPMC10048180
OpenAlexW4323847901

What OpenQuestion holds

Textfull text, public
LicenceCC BY
measurements read8
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.