ArticleJournal of Korean medical science2012
Mosaic ring chromosome 6 in an infant with significant patent ductus arteriosus and multiple congenital anomalies.
Article in Journal of Korean medical science, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
5 citing papers in PubMed, 7 citations in OpenAlex.
- Restrictive cardiomyopathy with ring chromosome 6 anomaly in a child.Anatolian journal of cardiology · 2021Article
- A child with intellectual disability and dysmorphism due to complex ring chromosome 6: identification of molecular mechanism with review of literature.Italian journal of pediatrics · 2018Review
- Molecular cytogenetic characterisation of a novelMolecular cytogenetics · 2017Article
- Congenital heart defects are rarely caused by mutations in cardiac and smooth muscle actin genes.BioMed research international · 2015Article
- Periventricular heterotopia and white matter abnormalities in a girl with mosaic ring chromosome 6.Molecular cytogenetics · 2015Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The clinical features of ring chromosome 6 include central nervous system anomalies, growth retardation, facial dysmorphism and other congenital anomalies. Ring chromosome 6 occurs rarely and manifests as various phenotypes. We report the case of mosaic ring chromosome 6 by conventional karyotyping in a 7-day-old male infant diagnosed with a large patent ductus arteriosus (PDA) with hypoplasia of aortic valve and aortic arch. These have not been previously reported with ring chromosome 6. He recovered from heart failure symptoms after ligation of the PDA. He showed infantile failure to thrive and delayed milestone in a follow-up evaluation. To the best of our knowledge, this is the first report of a Korean individual with ring chromosome 6 and hemodynamically significant PDA.
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