Evidence map›Paper›PMID 38540405›Full record

SynthesisGenes2024

Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature.

Valentina Trevisan, Anna Meroni, Chiara Leoni, Fabio Sirchia, Davide Politano, Giacomo Fiandrino, Valentina Giorgio, Donato Rigante, Domenico Limongelli, Lucrezia Perri and 8 more

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

Synthesis in Genes, 2024. 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
4.4field-weighted citation impact, top 7% 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, 4 citations in OpenAlex.

  1. Review
  2. Review
  3. 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

18 authors at 3 institutions in 1 country.

Valentina TrevisanCentre for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, 00168 Rome, Italy.ORCID 0000-0002-9566-4971
Anna MeroniHuman Genetics, Molecular Medicine Department, University of Pavia and IRCCS Fondazione Policlinico San Matteo, 27100 Pavia, Italy.ORCID 0000-0002-8428-7162
Chiara LeoniCentre for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, 00168 Rome, Italy.ORCID 0000-0002-4089-637X
Fabio SirchiaHuman Genetics, Molecular Medicine Department, University of Pavia and IRCCS Fondazione Policlinico San Matteo, 27100 Pavia, Italy.ORCID 0000-0002-4598-2023
Davide PolitanoDepartment of Brain and Behavioral Sciences, University of Pavia, IRCCS Mondino, 27100 Pavia, Italy.ORCID 0000-0002-3795-1972
Giacomo FiandrinoDepartment of Molecular Medicine, Anatomic Pathology Unit, University of Pavia and Fondazione IRCCS San Matteo Hospital, 27100 Pavia, Italy.ORCID 0000-0002-9555-916X
Valentina GiorgioCentre for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, 00168 Rome, Italy.ORCID 0000-0002-7448-8710
Donato RiganteDepartment of Life Sciences and Public Health, Catholic University of the Sacred Heart, 00168 Rome, Italy.ORCID 0000-0001-7032-7779
Domenico LimongelliCentre for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, 00168 Rome, Italy.
Lucrezia PerriCentre for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, 00168 Rome, Italy.
Elisabetta SforzaChild Neurology and Psychiatry Unit, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, 00168 Rome, Italy.ORCID 0000-0002-5646-7406
Francesca LeonardiGenomic Medicine, Department of Life Sciences and Public Health, Catholic University of the Sacred Heart, 00168 Rome, Italy.
Germana ViscogliosiCentre for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, 00168 Rome, Italy.ORCID 0000-0002-1697-6337
Ilaria ContaldoChild Neurology and Psychiatry Unit, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, 00168 Rome, Italy.
Daniela OrteschiGenomic Medicine, Department of Life Sciences and Public Health, Catholic University of the Sacred Heart, 00168 Rome, Italy.
Luca ProiettiDepartment of Orthopaedics and Traumatology, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, 00168 Rome, Italy.
Giuseppe ZampinoCentre for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, 00168 Rome, Italy.
Roberta OnesimoCentre for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, 00168 Rome, Italy.ORCID 0000-0003-3128-6657
Agostino Gemelli University Polyclinic · ITUniversità Cattolica del Sacro Cuore · ITUniversity of Pavia · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAmong aneuploidies compatible with life, trisomy 22 mosaicism is extremely rare, and only about 25 postnatal and 18 prenatal cases have been described in the literature so far. The condition is mainly characterized by facial and body asymmetry, cardiac heart defects, facial dysmorphisms, growth failure, delayed puberty, and variable degrees of neurodevelopmental delay. PROBLEM: The scattered information regarding the condition and the dearth of data on its natural history and developmental outcomes restrict genetic counseling, particularly in prenatal settings. Moreover, a prompt diagnosis is frequently delayed by the negative selection of trisomic cells in blood, with mosaicism percentage varying among tissues, which often entails the need for further testing. Purpose/topic: The aim of our work is to provide assistance in prenatal and postnatal genetic counseling by systematically delineating the current knowledge of the condition. This entails defining the prenatal and postnatal characteristics of the condition and presenting novel data from three cases, both prenatally and postnatally. Additionally, we report the developmental outcomes observed in two new patients.

Indexed as

Chromosomes, Human, Pair 22MosaicismTrisomyChromosome DisordersFemaleGenetic CounselingHumansInfant, NewbornMalePregnancyPrenatal DiagnosisUniparental Disomymosaic aneuploidiesmosaic trisomy 22trisomy 22 mosaicism

Identifiers

PMID38540405
PMCPMC10970670
OpenAlexW4392599968

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.