ReviewGenes2026
Interstitial 12p Deletion Syndrome: Revised Minimal Critical Region and Review of the Literature.
Review in Genes, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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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.
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Authors and funding
6 authors.
Funding
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Abstract
backgroundInterstitial deletions of the short arm of chromosome 12 are rare, and very little is known about the potential genetic basis of the most common phenotypic presentations to date described in the literature.
methodsIn the present study, we present a new patient carrying a heterozygous
resultsComparison between the new case with phenotypically similar 12p-deleted patients drawn from the literature and from the DECIPHER (the DatabasE of Chromosomal Imbalances and Phenotypes using Ensembl Resources) database allowed us to analyze 22 cases and to define a revised minimal critical region not previously considered. DISCUSSION: Within the new minimal critical region, we identified genes intolerant to haploinsufficiency, highlighting the involvement of
conclusionsWe suggest that clinical severity in cases with 12p deletions varies depending on the cytobands involved, being more moderate when they occur at 12p11-where the gene
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