6533b832fe1ef96bd129a2f9

RESEARCH PRODUCT

Ring 17 syndrome: first clinical report without intellectual disability

Elisabetta LenziniBarbara BacciD De CarloVincenza TarantinoLuca De PalmaLuca De PalmaClementina BoniverMarilena Vecchi

subject

Ring ChromosomePathologymedicine.medical_specialtyAdolescentRing chromosomeDrug ResistanceStatus epilepticusNeuropsychological TestsBiologyExecutive FunctionEpilepsyCognitionIntellectual DisabilityIntellectual disabilitymedicineHumansRing ChromosomesGeneticsRing (mathematics)EpilepsyRing 17 syndromeSettore M-PSI/02 - Psicobiologia E Psicologia FisiologicaRing 20 syndromeChromosome analysiChromosomeFocal epilepsyElectroencephalographyKaryotypeSyndromeGeneral Medicinemedicine.diseaseSettore MED/39 - Neuropsichiatria InfantileNeurologyEpilepsy syndromesFemaleNeuropsychological TestNeurology (clinical)medicine.symptomChromosomes Human Pair 17Human

description

Ring chromosomes are rare abnormalities caused by the fusion of the telomeric regions. Three-ring chromosome syndromes (Cr 20, Cr 17 and Cr 14) cause epilepsy with variable phenotypes. In ring 17 patients with mild phenotype, some authors have shown an epilepsy syndrome similar to that of ring 20. We report the first case of a girl with ring chromosome 17 and a normal neurological and general cognitive profile. She had had, from 9 years old, focal pharmacoresistant epilepsy associated with episodes of non-convulsive status epilepticus with mainly autonomic features. Cytogenetic analysis revealed an abnormal karyotype characterised by the presence of de novo ring chromosome 17 in 19% of metaphases. The array CGH (100 KB) did not show any genetic deletion. The clinical and epilepsy phenotype was, to a certain degree, similar to that of ring 20 syndrome.

https://doi.org/10.1684/epd.2015.0726