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Article

Bilateral perisylvian polymicrogyria and chromosome 1 anomaly.

Pediatric neurology - 1 Jun 2007

Ribeiro Maria do Céu, Gama de Sousa Susana, Freitas Manuela Mota, Carrilho Inês, Fernandes Isilda

Abstract excerpt

Polymalformative syndromes are always a clinical challenge for their complexity and sometimes for their rarity. Authors present the case of a girl with peculiar facies, macrocephaly, axial hypotonia, and severe development delay. Cerebral magnetic resonance showed polymicrogyria. Cytogenetics revealed a 46,XX,der(1)(qter-->p36.13::q42.3-->qter) karyotype. This is the third case described to date. Isolated partial...

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PMID: 17560507
DOI: 10.1016/j.pediatrneurol.2007.01.015

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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