Bilateral perisylvian polymicrogyria and chromosome 1 anomaly.
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.
Ribeiro
Maria do Céu
Mdo C
Pediatrics Department, S João Hospital, Porto, Portugal. mariadoceuribeiro@yahoo.co.uk
Gama de Sousa
Susana
S
Freitas
Manuela Mota
MM
Carrilho
Inês
I
Fernandes
Isilda
I
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