ArticleJournal of pediatric genetics2022
Clinical Features to Predict 22q11.2 Deletion Syndrome Proven by Molecular Genetic Testing.
Article in Journal of pediatric genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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.
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.
Who cites it
2 citing papers in PubMed, 3 citations in OpenAlex.
- Mexican Patients With Suspected 22q11.2 Deletion Syndrome: Clinical Characterization and Molecular Findings by Fluorescence In Situ Hybridization and Multiplex Ligation-Dependent Probe Amplification.Molecular genetics & genomic medicine · 2025Article
- Late maternal diagnosis of DiGeorge syndrome with congenital hypoparathyroidism following antenatal detection of the same 22q11.2 microdeletion syndrome in the fetus.BMJ case reports · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The 22q11.2 deletion syndrome (22q11.2 DS) is the most common microdeletion syndrome with a wide variety of clinical features. However, as there are no clinical criteria for diagnosis, confirmation is solely done by genetic tests if clinicians recognize the syndrome. Therefore, we aimed to identify clinical features that may help clinicians recognize 22q11.2 DS. Participants with at least two anomalies were enrolled, complete patient history and physical examinations were performed, then multiplex ligation-dependent probe amplification (MLPA) analysis for 22q11.2 DS was utilized. We identified 11/48 (23%) cases with 22q11.2 DS. Palatal anomalies, hypocalcemia, and ≥3 affected body systems were highly significant presentations in the 22q11.2 DS group versus the group without deletion (
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.