Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Robin, NH; Taylor, CJ; McDonald-McGinn, DM; Zackai, EH; Bingham, P; Collins, KJ; Earl, D; Gill, D; Granata, T; Guerrini, R; Katz, N; Kimonis, V; Lin, J-P; Lynch, DR; Mohammed, SN; Massey, RF; McDonald, M; Rogers, RC; Splitt, M; Stevens, CA; Tischkowitz, MD; Stoodley, N; Leventer, RJ; Pilz, DT; Dobyns, WB

Published Date

  • November 15, 2006

Published In

Volume / Issue

  • 140 / 22

Start / End Page

  • 2416 - 2425

PubMed ID

  • 17036343

International Standard Serial Number (ISSN)

  • 1552-4825

Digital Object Identifier (DOI)

  • 10.1002/ajmg.a.31443


  • eng

Conference Location

  • United States