ArticleBMC medical genomics2013
Array-CGH characterization and genotype-phenotype analysis in a patient with a ring chromosome 6.
Article in BMC medical genomics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 15 citations in OpenAlex.
- The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1.Orphanet journal of rare diseases · 2023Article
- 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
- Periventricular heterotopia and white matter abnormalities in a girl with mosaic ring chromosome 6.Molecular cytogenetics · 2015Article
- Clinical and genetic characterization of basal cell carcinoma and breast cancer in a single patient.SpringerPlus · 2014Article
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRing chromosome 6 is a rare constitutional abnormality that generally occurs de novo. The related phenotype may be highly variable ranging from an almost normal phenotype to severe malformations and mental retardation. These features are mainly present when genetic material at the end of the chromosome is lost. The severity of the phenotype seems to be related to the size of the deletion. About 25 cases have been described to date, but the vast majority reports only conventional cytogenetic investigations. CASE PRESENTATION: Here we present an accurate cyto-molecular characterization of a ring chromosome 6 in a 16-months-old Caucasian girl with mild motor developmental delay, cardiac defect, and facial anomalies. The cytogenetic investigations showed a karyotype 46,XX,r(6)(p25q27) and FISH analysis revealed the absence of the signals on both arms of the chromosome 6. These results were confirmed by means of array-CGH showing terminal deletions on 6p25.3 (1.3 Mb) and 6q26.27 (6.7 Mb). Our data were compared to current literature.
conclusionsOur report describes the case of a patient with a ring chromosome 6 abnormality completely characterized by array CGH which provided additional information for genotype-phenotype studies.
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