title: Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.
abstract: Several brain malformations have been described in rare patients with the deletion 22q11.2 syndrome (DEL22q11) including agenesis of the corpus callosum, pachygyria or polymicrogyria (PMG), cerebellar anomalies and meningomyelocele, with PMG reported most frequently. In view of our interest in the causes of PMG, we reviewed clinical data including brain-imaging studies on 21 patients with PMG associated with deletion 22q11.2 and another 11 from the literature. We found that the cortical malformation consists of perisylvian PMG of variable severity and frequent asymmetry with a striking predisposition for the right hemisphere (P = 0.008). This and other observations suggest that the PMG may be a sequela of abnormal embryonic vascular development rather than a primary brain malformation. We also noted mild cerebellar hypoplasia or mega-cisterna magna in 8 of 24 patients. Although this was not the focus of the present study, mild cerebellar anomalies are probably the most common brain malformation associated with DEL22q11.
authors.affiliation: Department of Genetics, University of Alabama at Birmingham, USA.
authors.forename: Nathaniel H
authors.initials: NH
authors.lastname: Robin
authors.forename: Clare J
authors.initials: CJ
authors.lastname: Taylor
authors.forename: Donna M
authors.initials: DM
authors.lastname: McDonald-McGinn
authors.forename: Elaine H
authors.initials: EH
authors.lastname: Zackai
authors.forename: Peter
authors.initials: P
authors.lastname: Bingham
authors.forename: Kevin J
authors.initials: KJ
authors.lastname: Collins
authors.forename: Dawn
authors.initials: D
authors.lastname: Earl
authors.forename: Deepak
authors.initials: D
authors.lastname: Gill
authors.forename: Tiziana
authors.initials: T
authors.lastname: Granata
authors.forename: Renzo
authors.initials: R
authors.lastname: Guerrini
authors.forename: Naomi
authors.initials: N
authors.lastname: Katz
authors.forename: Virginia
authors.initials: V
authors.lastname: Kimonis
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Lin
authors.forename: David R
authors.initials: DR
authors.lastname: Lynch
authors.forename: Shehla N
authors.initials: SN
authors.lastname: Mohammed
authors.forename: Roger F
authors.initials: RF
authors.lastname: Massey
authors.forename: Marie
authors.initials: M
authors.lastname: McDonald
authors.forename: R Curtis
authors.initials: RC
authors.lastname: Rogers
authors.forename: Miranda
authors.initials: M
authors.lastname: Splitt
authors.forename: Cathy A
authors.initials: CA
authors.lastname: Stevens
authors.forename: Marc D
authors.initials: MD
authors.lastname: Tischkowitz
authors.forename: Neil
authors.initials: N
authors.lastname: Stoodley
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Leventer
authors.forename: Daniela T
authors.initials: DT
authors.lastname: Pilz
authors.forename: William B
authors.initials: WB
authors.lastname: Dobyns
mesh_terms: D002531:Cerebellum / Q000002:abnormalities / Q000000981:diagnostic imaging / Q000473:pathology; D002540:Cerebral Cortex / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D013577:Syndrome; D014057:Tomography, X-Ray Computed; D014681:Velopharyngeal Insufficiency / Q000235:genetics