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

Nathaniel H. Robin, Clare J. Taylor, Donna M. McDonald-McGinn, Elaine H. Zackai, Peter Bingham, Kevin J. Collins, Dawn Earl, Deepak Gill, Tiziana Granata, Renzo Guerrini, Naomi Katz, Virginia Kimonis, Jean Pierre Lin, David R. Lynch, Shehla N. Mohammed, Roger F. Massey, Marie McDonald, R. Curtis Rogers, Miranda Splitt, Cathy A. StevensMarc D. Tischkowitz, Neil Stoodley, Richard J. Leventer, Daniela T. Pilz, William B. Dobyns

Research output: Contribution to journalArticlepeer-review

122 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)2416-2425
Number of pages10
JournalAmerican Journal of Medical Genetics, Part A
Issue number22
StatePublished - Nov 15 2006
Externally publishedYes


  • Cerebellar hypoplasia
  • Chromosome 22
  • Deletion 22q11.2
  • Perisylvian polymicrogyria


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