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Table 1 Clinical phenotypes of the patients enrolled for the study and conventional cytogenetics results

From: Genetic investigations on 8 patients affected by ring 20 chromosome syndrome

Case Sex r(20) %a r(20) %b Age at study (year) Age at diagnosis
(year)
IQ Growth retardation Facial dysmorphisms Major
Malform-ations
Behaviour problem Seizures Onset age
(year)
Type of epilepsy Clinical course NCSE Seizures frequency EEG
FL° M 71 81 30 17 60 - - - + + 5 Focal Epilepsy Drug-resistance + Monthly Fronto-temporal sharp-waves
DG* F 67 58 22 13 69 - - - + + 4 Focal Epilepsy Drug-resistance + Weekly Frontal sharp-waves
CD* F 42 46 13 10 80 - - - + + 9 Focal Epilepsy Drug-resistance + Daily Frontal sharp-waves
BV F 42 37 19 12 71 + - + +** + 12 Focal epilepsy Drug-resistance + Daily Frontal sharp-waves
PE F 34 5 16 14 80 - - - + + 10 Focal epilepsy Drug-resistance + Weekly Frontal sharp-waves
MM F 30 NE 3 PD 101 + + - - - - - - - - Normal
FMA° F 9 0 59 44 83 - - - - + 11 Focal epilepsy Controlled - - Fronto-temporal sharp-waves
BD° M 8 3 34 21 N - - - - + 17 ND Controlled - - Fronto-temporal sharp-waves
  1. a % observed in proband's lymphocytes; b % observed in proband's fibroblasts; ° patients described in: Canevini MP et al. [4]; * patients described in: Vignoli A et al [8]; N Normal; ** Behavioural problems started at age 7 before seizure onset; ND: not determined; NE Not evaluated (prenatal diagnosis): 60% of cells with r(20) on chorionic villi and 14% on amniocytes.; NCSE Non Convulsive Status Epilepticus; PD Prenatal diagnosis of r(20) mosaicism.