ArticleBMC medical genomics2020
Mosaic chromosome 18 anomaly delineated in a child with dysmorphism using a three-pronged cytogenetic techniques approach: a case report.
Article in BMC medical genomics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed, 3 citations in OpenAlex.
- Unravelling ring chromosome structures and formation mechanisms by short-read and long-read genomic sequencing.Genetics in medicine open · 2026Article
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7 authors at 2 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundA plethora of cases are reported in the literature with iso- and ring-chromosome 18. However, co-occurrence of these two abnormalities in an individual along with a third cell line and absence of numerical anomaly is extremely rare. CASE PRESENTATION: A 7-year-old female was referred for diagnosis due to gross facial dysmorphism and severe developmental delay. She presented with dysmorphic features, hypo/hyper pigmentation of the skin, intellectual disability and craniosynostosis. G-banding chromosome analysis suggested mos 46,XX,psu idic(18)(p11.2)[25]/46,XX,r(?18)[30]. Additional analysis by molecular karyotyping suggested pure partial deletion of 15 Mb on 18p (18p11.32p11.21). Lastly, multiple rearrangements and detection of a third cell line (ring chr18 and interstitial deletion) of chr18 was observed by multi-color banding.
conclusionThe current study presents a novel case of chromosomal abnormalities pertaining to chromosome 18 across 3 cell lines, which were delineated with a combinatorial approach of diagnostic methods.
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