Genetic investigations on 8 patients affected by ring 20 chromosome syndrome

BMC Medical Genetics

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

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

^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.

ISSN: 1471-2350