ReviewNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2021
Mosaic ring chromosome 18 in a Chinese child with epilepsy: a case report and review of the literature.
Review in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021. 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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Who cites it
1 citing paper in PubMed, 2 citations in OpenAlex.
- Ring 18 chromosome associated with cleft palate: case report and comprehensive literature review of clinical symptoms.Orphanet journal of rare diseases · 2024Review
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Authors and funding
6 authors at 1 institution in 2 countries.
Funding
Abstract
backgroundRing chromosome 18 (r[18]) is a rare syndrome in which one or both ends of chromosome 18 are lost and the remaining chromosome rejoins to form ring-shaped figures. It is characterized by developmental delay/cognitive disability, facial dysmorphisms, and immunological problems. The phenotype associated with epilepsy is rare and has not yet been reported in China.
methodsWe report herein the case of a 12-year-old Chinese girl who presented with typical facial dysmorphisms, developmental delay, cognitive disability, hyperactivity, and epilepsy and discuss the clinical features of r(18) syndromes through comparison with previously described cases worldwide.
resultsWe describe the characteristics of all seizures that have been reported in these cases and propose that the appearance of epilepsy in r(18) patients may be associated with the abnormality of chromosome karyotypes. Further studies are warranted to confirm this.
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