Article
Genetic investigations on 8 patients affected by ring 20 chromosome syndrome.
BMC medical genetics - 12 Oct 2010
Giardino Daniela, Vignoli Aglaia, Ballarati Lucia, Recalcati Maria Paola, Russo Silvia, Camporeale Nicole, Marchi Margherita, Finelli Palma, Accorsi Patrizia, Giordano Lucio, La Briola Francesca, Chiesa Valentina, Canevini Maria Paola, Larizza Lidia
Abstract excerpt
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...
Topics
- Adolescent
- Adult
- Child, Preschool
- Chromosome Disorders
- Chromosomes, Human, Pair 20
- Cognition Disorders
- Comparative Genomic Hybridization
- Electroencephalography
- Epilepsy
- Female
- Humans
- In Situ Hybridization, Fluorescence