title: Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication.
abstract: Polymicrogyria (PMG) is a relatively common malformation of the cortex for which the pathogenesis remains poorly understood. Both acquired and genetic causes are known, and to date more than 70 cases of PMG have been associated with chromosomal abnormalities. Here we report on a 12-year-old girl presenting with asymmetrical PMG predominantly affecting the right occipital lobe. She was the only child of consanguineous parents. At 7 years of age she was referred for mental retardation with speech delay and seizures. Cytogenetic studies of the patient revealed an inverted 9p duplication/deletion and bacterial artificial chromosomes (BACs)-array also showed a 22q11.2 microduplication confirmed by quantitative PCR. This case is of interest in the search for candidate genes and emphasizes the importance of the 22q11 region in PMG. It also highlights the efficiency of BACs-array in detecting complex rearrangements.
authors.affiliation: Département de Génétique, CHU le Bocage, Dijon, France. moscaal@yahoo.fr
authors.forename: A L
authors.initials: AL
authors.lastname: Mosca
authors.forename: P
authors.initials: P
authors.lastname: Callier
authors.forename: L
authors.initials: L
authors.lastname: Faivre
authors.forename: N
authors.initials: N
authors.lastname: Marle
authors.forename: N
authors.initials: N
authors.lastname: Mejean
authors.forename: C
authors.initials: C
authors.lastname: Thauvin-Robinet
authors.forename: A
authors.initials: A
authors.lastname: Masurel-Paulet
authors.forename: N
authors.initials: N
authors.lastname: Madinier
authors.forename: C
authors.initials: C
authors.lastname: Durand
authors.forename: G
authors.initials: G
authors.lastname: Couillaud
authors.forename: S
authors.initials: S
authors.lastname: Ragot
authors.forename: F
authors.initials: F
authors.lastname: Huet
authors.forename: J R
authors.initials: JR
authors.lastname: Teyssier
authors.forename: F
authors.initials: F
authors.lastname: Mugneret
mesh_terms: D002648:Child; D002869:Chromosome Aberrations; D019457:Chromosome Breakage; D002872:Chromosome Deletion; D020223:Chromosome Painting; D022202:Chromosomes, Artificial, Bacterial; D002892:Chromosomes, Human, Pair 22; D002899:Chromosomes, Human, Pair 9; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D017403:In Situ Hybridization; D007621:Karyotyping; D054220:Malformations of Cortical Development / Q000235:genetics*; D009693:Nucleic Acid Hybridization; D020411:Oligonucleotide Array Sequence Analysis; D020161:Physical Chromosome Mapping; D016133:Polymerase Chain Reaction