ArticleMolecular cytogenetics2012
Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene.
Article in Molecular cytogenetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 19 citations in OpenAlex.
- Novel Generation-Skipping Inheritance Pattern of Marfan Syndrome Due toCase reports in genetics · 2026Article
- High-Throughput Genomics Identify NovelInternational journal of molecular sciences · 2024Article
- Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature.Molecular genetics & genomic medicine · 2023Review
- Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene.Molecular cytogenetics · 2023Article
- Case Report: Decrypting an interchromosomal insertion associated with Marfan's syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants.Frontiers in genetics · 2023Article
- Marfan Syndrome Caused by Disruption of theGenes · 2021Article
- An integrated clinical and molecular study of a cohort of Turkish patients with Marfan syndrome harboring known and novel FBN1 variants.Journal of human genetics · 2021Article
- Lung Function Changes are More Common in Marfan Patients Who Need Major Thoracic Surgery.Lung · 2019Article
- Intragenic multi-exon deletion in the FBN1 gene in a child with mildly dilated aortic sinus: a retrotransposal event.Journal of human genetics · 2017Article
- Aortic dilation, genetic testing, and associated diagnoses.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome.Case reports in genetics · 2016Article
- Possible extracardiac predictors of aortic dissection in Marfan syndrome.BMC cardiovascular disorders · 2014Article
- Characterization of a complex chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and developmental delay.Molecular cytogenetics · 2014Article
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe majority of Marfan syndrome (MFS) cases is caused by mutations in the fibrillin-1 gene (FBN1), mapped to chromosome 15q21.1. Only few reports on deletions including the whole FBN1 gene, detected by molecular cytogenetic techniques, were found in literature.
resultsWe report here on a female patient with clinical symptoms of the MFS spectrum plus craniostenosis, hypothyroidism and intellectual deficiency who presents a 1.9 Mb deletion, including the FBN1 gene and a complex rearrangement with eight breakpoints involving chromosomes 6, 12 and 15. DISCUSSION: This is the first report of MFS with a complex chromosome rearrangement involving a deletion of FBN1 and contiguous genes. In addition to the typical clinical findings of the Marfan syndrome due to FBN1 gene haploinsufficiency, the patient presents features which may be due to the other gene deletions and possibly to the complex chromosome rearrangement.
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