ArticleMaedica2011
A rare chromosomal disorder - isochromosome 18p syndrome.
Article in Maedica, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD study.Genetics in medicine open · 2023Article
- BACs-on-Beads Assay for the Prenatal Diagnosis of Microdeletion and Microduplication Syndromes.Molecular diagnosis & therapy · 2021Article
- Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization.Molecular cytogenetics · 2019Article
- Systematics for types and effects of DNA variations.BMC genomics · 2018Review
- Tetrasomy 18p: case report and review of literature.The application of clinical genetics · 2018Article
- Small supernumerary marker chromosomes and their correlation with specific syndromes.Advanced biomedical research · 2015Review
- A case report of prenatally diagnosed tetrasomy 18p.Obstetrics & gynecology science · 2013Article
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTetrasomy 18p is a very rare chromosomal disorder and is the result of a spontaneous mutation early in embryonic development in most of the cases. This condition is characterised by the presence of a supernumerary 18p isochromosome (i(18p)) in all or some cells of the affected individual. It has a prevalence of 1/180000 live births and affects both genders equally. MATERIALS AND
methodsIn this paper we report a de novo tetrasomy 18p in a 3 months old female dysmorphic child. The clinical features were distinctive with a particular facies, strabismus, microcephaly, growth delay, neonatal hypertonia and talipes varus. An additional small metacentric marker chromosome has been identified after standard cytogenetic analysis, without recognized parental origin of the supplementary genetic material. The child's parents were also tested and their karyotype results were normal. The characterization of the marker chromosome was performed in our genetics laboratory using conventional cytogenetic methods and Fluorescence in Situ Hybridization (FISH) analysis. Also, our patient was compared with other published cases with the same diagnosis.
conclusionCytogenetic investigation is an essential step towards the accurate diagnosis of individuals with clinical suspicion of a genetic anomaly. Also, this type of investigation could offer critical information to the practitioner for prognosis of patient and the correct appreciation of the recurrence risk of a certain genetic condition.With current advances in preventive and interventional procedures, patients with rare chromosomal disorders can live longer. Therefore, proper medical and behavioural management of each case is important for the enhancement of the quality of life for the patients and their families.
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Registered trials
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