title: Bilateral perisylvian polymicrogyria and chromosome 1 anomaly.
abstract: 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 deletions or trisomy, although rare, are more frequently reported. None of these genetic findings has ever been related with polymicrogyria. Molecular cytogenetic characterization was in this case of great value.
authors.affiliation: Pediatrics Department, S João Hospital, Porto, Portugal. mariadoceuribeiro@yahoo.co.uk
authors.forename: Maria do Céu
authors.initials: Mdo C
authors.lastname: Ribeiro
authors.forename: Susana
authors.initials: S
authors.lastname: Gama de Sousa
authors.forename: Manuela Mota
authors.initials: MM
authors.lastname: Freitas
authors.forename: Inês
authors.initials: I
authors.lastname: Carrilho
authors.forename: Isilda
authors.initials: I
authors.lastname: Fernandes
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D001921:Brain / Q000002:abnormalities*; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002878:Chromosomes, Human, Pair 1; D041321:Chromosomes, Human, X; D002658:Developmental Disabilities / Q000235:genetics* / Q000473:pathology; D019066:Facies; D005260:Female; D007839:Functional Laterality; D006801:Humans; D008279:Magnetic Resonance Imaging; D010641:Phenotype