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We report two boys with chromosome 22q11 deletion syndrome and polymicrogyria, and describe the neuropathological features of the malformation in one of them. Clinical examinations, EEG, brain MRI, chromosomal analysis with <jats:italic>FISH<\/jats:italic>, and neuropathological studies of surgically resected cortical tissue were performed. Both patients showed severe developmental delay with cardiovascular malformations and one of them had drug resistant epilepsy. Polymicrogyria was found in the frontal, parietal, and temporal areas, unilaterally in one patient and bilaterally in the other. Histology revealed four\u2010layered polymicrogyria. The pathogenesis of polymicrogyria in 22q11 deletion syndrome is discussed. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30014","type":"journal-article","created":{"date-parts":[[2004,3,25]],"date-time":"2004-03-25T18:00:29Z","timestamp":1080237629000},"page":"313-317","source":"Crossref","is-referenced-by-count":48,"title":["Clinical, MRI, and pathological features of polymicrogyria in chromosome 22q11 deletion 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