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[Epilepsy in an adult with chromosome 22q11 micro-deletion]
1Service de Neurologie et maladies neuro-musculaires, Hôpital de la Timone, Marseille.
Revue Neurologique
|December 22, 1999
Abstract:
Chromosome 22q11 deletion is a frequent genetic anomaly, recently discovered, responsible for DiGeorge syndrome and velo-cardio-facial syndrome. The spectrum of clinical features is large: dysmorphic syndrome, mental delay, conotroncal cardiopathy; neurologic manifestations are not rare. Case report is a 28 year old man who presented a symptomatic epilepsy caused by stroke, associated with conotroncal cardiopathy, mental delay, hypocalcemia and facial dysmorphy. A cytogenetic study confirmed the chromosome 22q11 deletion.