ArticleCureus2025
Congenital Anomalies in a Neonate With Partial Monosomy of Chromosome 21 q Arm: A Case Report.
Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital anomalies are a major cause of infant morbidity and mortality. Whole-genome sequencing provides a potential tool for solving diagnostic dilemmas in such instances. We report an interesting case of a neonate from India with holoprosencephaly and multiple associated anomalies, including dysmorphic features and ventricular septal defect. Karyotype analysis revealed mitotic instability. Both ring chromosome 21 and deletions in the q arm of chromosome 21 were observed in the metaphase spreads. To characterize the genomic abnormality more precisely, whole genome sequencing was performed, which identified a partial monosomy involving the 21q22.11-q22.3 region. This case demonstrates how whole-genome sequencing effectively identifies copy number variations and complex structural abnormalities, providing valuable insights into the genetic basis of congenital abnormalities.
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.