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Article

[22q11 deletion syndrome: an expanding phenotype].

Neurologia (Barcelona, Spain) - 1 Jan 2000

Moreno Izco F, Zuazo Zamalloa E, González Alvaredo S, Bereciartu Irastorza P

Abstract excerpt

INTRODUCTION: Chromosome 22q11 deletion syndrome is a syndromic complex which includes several manifestations such as cardiac defects, immunodeficiency, cleft palate and facial dysmorphic features. It is also associated with developmental delay and other neuropsychiatric symptoms. Epilepsy is an uncommon manifestation. CASE REPORT: A 15 year old female patient with a history of developmental delay and learning...

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PMID: 19214819

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