Evidence map›Paper›PMID 38674452›Full record

ArticleGenes2024

22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity.

Melissa Bittencourt de Wallau, Ana Carolina Xavier, Carolina Araújo Moreno, Chong Ae Kim, Elaine Lustosa Mendes, Erlane Marques Ribeiro, Amanda Oliveira, Têmis Maria Félix, Agnes Cristina Fett-Conte, Luciana Cardoso Bonadia and 4 more

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

Article in Genes, 2024. 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
–field-weighted citation impact, top 94% 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, 0 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

14 authors at 8 institutions in 1 country.

Melissa Bittencourt de WallauMedical Genetics and Genomic Medicine, Department of Translational Medicine, School of Medical Sciences, State University of Campinas, Campinas 13083-887, São Paulo, Brazil.ORCID 0000-0002-4487-1196
Ana Carolina XavierCentrinho Prefeito Luiz Gomes, Joinville 89203-020, Santa Catarina, Brazil.
Carolina Araújo MorenoMedical Genetics and Genomic Medicine, Department of Translational Medicine, School of Medical Sciences, State University of Campinas, Campinas 13083-887, São Paulo, Brazil.
Chong Ae KimInstituto da Criança, Hospital de Clínicas, FMUSP, São Paulo 05403-000, São Paulo, Brazil.ORCID 0000-0002-1754-1300
Elaine Lustosa MendesServiço de Genética do Hospital de Clínicas da UFPR, Curitiba 80060-900, Paraná, Brazil.
Erlane Marques RibeiroServiço de Genética do Hospital Infantil Albert Sabin-HIAS, Fortaleza 60410-794, Ceará, Brazil.
Amanda OliveiraCentro de Atenção aos Defeitos da Face-CADEFI, Recife 50060-293, Pernambuco, Brazil.
Têmis Maria FélixServiço de Genética Médica do Hospital de Clínicas de Porto Alegre-HCPA, Porto Alegre 90035-903, Rio Grande do Sul, Brazil.
Agnes Cristina Fett-ConteServiço de Genética da Faculdade de Medicina de São José do Rio Preto (FAMERP/FUNFARME), São José do Rio Preto 15090-000, São Paulo, Brazil.
Luciana Cardoso BonadiaMedical Genetics and Genomic Medicine, Department of Translational Medicine, School of Medical Sciences, State University of Campinas, Campinas 13083-887, São Paulo, Brazil.
Gabriela Roldão Correia-CostaMedical Genetics and Genomic Medicine, Department of Translational Medicine, School of Medical Sciences, State University of Campinas, Campinas 13083-887, São Paulo, Brazil.
Isabella Lopes MonlleóServiço de Genética Médica do Hospital Universitário Prof. Alberto Antunes (HUPAA), Faculdade de Medicina, Universidade Federal de Alagoas (UFAL), Maceió 57072-900, Alagoas, Brazil.ORCID 0000-0003-0992-2151
Vera Lúcia Gil-da-Silva-LopesMedical Genetics and Genomic Medicine, Department of Translational Medicine, School of Medical Sciences, State University of Campinas, Campinas 13083-887, São Paulo, Brazil.ORCID 0000-0003-1288-0554
Társis Paiva VieiraMedical Genetics and Genomic Medicine, Department of Translational Medicine, School of Medical Sciences, State University of Campinas, Campinas 13083-887, São Paulo, Brazil.ORCID 0000-0003-4027-8341
Universidade Estadual de Campinas (UNICAMP) · BRCentro de Estudos e Sistemas Avançados do Recife · BRFaculdade de Medicina de São José do Rio Preto · BRHospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo · BRHospital de Clínicas de Porto Alegre · BRHospital de Clínicas Universidade Federal do Paraná · BRHospital Infantil Albert Sabin · BRUniversidade Federal de Alagoas · BR

Funding

Coordenação de Aperfeicoamento de Pessoal de Nível Superior 88887.615832/2021-00Fundação de Amparo à Pesquisa do Estado de São Paulo 2012/51799-6; 2018/08890-9National Council for Scientific and Technological Development 304684/2023-6
6 · The paper itself

Abstract

22q11.2 deletion syndrome (22q11.2DS) shows significant clinical heterogeneity. This study aimed to explore the association between clinical heterogeneity in 22q11.2DS and the parental origin of the deletion. The parental origin of the deletion was determined for 61 individuals with 22q11.2DS by genotyping DNA microsatellite markers and single-nucleotide polymorphisms (SNPs). Among the 61 individuals, 29 (47.5%) had a maternal origin of the deletion, and 32 (52.5%) a paternal origin. Comparison of the frequency of the main clinical features between individuals with deletions of maternal or paternal origin showed no statistically significant difference. However,

Indexed as

DiGeorge SyndromeAdolescentAdultChildChild, PreschoolChromosomes, Human, Pair 22FemaleHumansInfantMalePhenotypePolymorphism, Single NucleotideYoung Adult22q11.2 deletion syndromeclinical heterogeneitygenomic imprintingparental origin

Identifiers

PMID38674452
PMCPMC11050591
OpenAlexW4394998976

What OpenQuestion holds

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LicenceCC BY
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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.