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Genetic Investigations on 8 Patients Affected by Ring 20 Chromosome Syndrome by Daniela Giardino; Aglaia Vignoli; Lucia Ballarati; Maria Paola Recalcati; Silvia Russo; Nicole Camporeale; Margherita Marchi; Palma Finelli; Patrizia Accorsi; Lucio Giordano; Francesca La Briola; Valentina Chiesa; Maria Paola Canevini; Lidia Larizza is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Genetic Investigations on 8 Patients Affected by Ring 20 Chromosome Syndrome about?

Background: Mosaic Chromosome 20 ring [r(20)] is a chromosomal disorder associated with a rare syndrome characterized by a typical seizure phenotype, a particular electroclinical pattern, cognitive impairment, behavioural problems and absence of a consistent pattern of dysmorphology. The pathogenic mechanism underlying seizures disorders in r(20) syndrome is still unknown. We performed a detailed clinical and genetic study on 8 patients with r(20) chromosome, aimed at detecting the genetic mechanism underlying r(20) syndrome. Methods: We submitted 8 subjects with a previous diagnosis of ring 20 chromosome mosaicism to a clinical reevaluation, followed by cytogenetic, FISH, array-CGH and molecular analyses. The genetic study was also extended to their available parents. Results: FISH and array-CGH experiments indicate that cryptic deletions on chromosome 20 are not the cause of the r(20) chromosome associated disease. Moreover, no evidence of chromosome 20 uniparental disomy was found. Analysis of FISH signals given by variant in size alphoid tandem repeats probes on the normal chromosome 20 and the r(20) chromosome in the mosaic carriers suggests that the r(20) chromosome is the sa

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Author

Daniela Giardino; Aglaia Vignoli; Lucia Ballarati; Maria Paola Recalcati; Silvia Russo; Nicole Camporeale; Margherita Marchi; Palma Finelli; Patrizia Accorsi; Lucio Giordano; Francesca La Briola; Valentina Chiesa; Maria Paola Canevini; Lidia Larizza

Publisher

BioMed Central; Springer (Biomed Central Ltd.); London: BioMed Central, 2000-; Springer Science and Business Media LLC (ISSN 1471-2350)

Published

2010

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)