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Rev Neurol (Paris). 1999 Nov;155(11):967-70.

[Epilepsy in an adult with chromosome 22q11 micro-deletion].

[Article in French]

Author information

  • 1Service de Neurologie et maladies neuro-musculaires, Hôpital de la Timone, Marseille.

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.

PMID:
10603642
[PubMed - indexed for MEDLINE]
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