ArticleBalkan journal of medical genetics : BJMG2026
Partial Trisomy 20qter on a Derivative Chromosome 22 in a Northern Italian Genetic Isolate with Oculo-Auriculo-Vertebral Spectrum-Related Features.
Article in Balkan journal of medical genetics : BJMG, 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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Abstract
Duplications of distal 20q are uncommon and the connection to oculo-auriculo-vertebral spectrum (OAVS) is still not clear. In this paper we describe a family-based cytogenetic case of a geographically isolated community in Northern Italy. Clinical data, pedigree information, and cytogenetic report from the proband were collected. Relatives were examined for OAVS-related features. Subtelomeric FISH analysis was performed with probes for 20qter and D22S1726 using peripheral blood lymphocytes to assess the rearrangement in detail. Descriptive statistics with 95% confidence intervals were computed. FISH demonstrated additional terminal material on der (22) consistent with a complex subtelomeric rearrangement and partial trisomy of 20qter. Among the 30 evaluated relatives, 15 (50.0%; exact 95% CI, 31.3-68.7) carried the rearrangement. Of these, 5 (33.3%; exact 95% CI, 11.8-61.6) exhibited features within the oculo-auriculo-vertebral spectrum, including preauricular tags, microtia or aural atresia, hemi-facial microsomia, ocular anomalies, vertebral defects, congenital heart disease, and hearing impairment. FISH does not provide information about the duplication segment or genes involved; therefore,
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