ArticleThe application of clinical genetics2018
Tetrasomy 18p: case report and review of literature.
Article in The application of clinical genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 23 citations in OpenAlex.
- A rare case of mosaic partial tetrasomy 18p presenting with oligomenorrhea and intellectual disability: a case report.Frontiers in medicine · 2026Article
- The behavioral phenotype in a cohort of patients with chromosome 18 anomalies: a retrospective observational study.Italian journal of pediatrics · 2025Observational
- Consanguinity and Occurrence of Monogenic Diseases in a Single Tertiary Centre in Riyadh, Saudi Arabia: A 2 Years Cross-Sectional Study.The application of clinical genetics · 2024Article
- Prenatal genetic diagnosis of tetrasomy 18p from maternal trisomy 18p: a case report.Molecular cytogenetics · 2022Article
- Minimally invasive endoscopic fenestration of a spinal arachnoid cyst in a child with tetrasomy 18p: illustrative case.Journal of neurosurgery. Case lessons · 2022Article
- Article
- Genotype-phenotype correlation in 75 patients with small supernumerary marker chromosomes.Molecular cytogenetics · 2020Article
- A novel heterozygous duplication of theJournal of genetics · 2019Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Tetrasomy 18p syndrome (Online Mendelian Inheritance in Man 614290) is a very rare chromosomal disorder that is caused by the presence of isochromosome 18p, which is a supernumerary marker composed of two copies of the p arm of chromosome 18. Most tetrasomy 18p cases are de novo cases; however, familial cases have also been reported. It is characterized mainly by developmental delays, cognitive impairment, hypotonia, typical dysmorphic features, and other anomalies. Herein, we report de novo tetrasomy 18p in a 9-month-old boy with dysmorphic features, microcephaly, growth delay, hypotonia, and cerebellar and renal malformations. We compared our case with previously reported ones in the literature. Clinicians should consider tetrasomy 18p in any individual with dysmorphic features and cardiac, skeletal, and renal abnormalities. To the best of our knowledge, we report for the first time an association of this syndrome with partial agenesis of cerebellar vermis.
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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.