Chromosomal abnormalities associated with polymicrogyria
| Reference | Year | Chromosomal abnormality | Aff | M | F | Brain abnormalities | |
|---|---|---|---|---|---|---|---|
| Aff, number affected; BPP, bilateral perisylvian polymicrogyria; BR, balanced rearrangement; CC, corpus callosum; CT, cervico-thoracic; CTP, centro-temporo-parietal; del, deletion; F, female; FTP, fronto-temporo-parietal; M, male; MCA, middle cerebral artery; PMG, polymicrogyria; PNH, periventricular nodular heterotopia; UR, unbalanced rearrangement. | |||||||
| A Deletion 22q11.2 | |||||||
| Cramer et al73 | 1996 | del 22q11.2 | 1 | 1 | – | Perisylvian (MCA) PMG | |
| Bingham et al74 | 1998 | del 22q11.2 | 2 | 1 | 1 | Unilateral perisylvian PMG + heterotopia + CT syrinx (1); BPP (1) | |
| Bird et al75 | 2000 | del 22q11.2 | 2 | 1 | 1 | Unilateral frontoparietal (1); unilateral parietal PMG + cleft (1) | |
| Kawame et al76 | 2000 | del 22q11.2 | 1 | 1 | – | Unilateral frontoparietal PMG | |
| Worthington et al77 | 2000 | del 22q11.2 | 1 | 1 | – | Bilateral perisylvian PMG | |
| Ghariani et al78 | 2002 | del 22q11.2 | 1 | 1 | – | Unilateral hemispheric PMG | |
| Ehara et al79 | 2002 | del 22q11.2 | 1 | 1 | – | Bilateral perisylvian PMG | |
| Sztriha et al80 | 2004 | del 22q11.2 | 2 | 2 | – | Unilateral/bilateral FTP PMG | |
| B Chromosomal rearrangements | |||||||
| Ramer et al84 | 1990 | UR: deletion of segment 2q31–2q33 | 1 | 1 | – | Bilateral CTP PMG + PNH + arachnoid cyst + hypoplasia of falx and CC | |
| Shapira et al85 | 1999 | Monosomy 1p36 | 1 | ? | ? | Extensive neuronal and glial heterotopia + PMG | |
| Dupuy et al86 | 1999 | UR: duplication of centromere of chr 11 and of segment 11q11–11q12 | 1 | 1 | – | Microcephaly, PMG and pachygyria | |
| Alkan et al87 | 2002 | UR: deletion of segments 18p11.2–18pter and 21pter–21q22.1 | 1 | 1 | – | Localised PMG | |
| Zollino et al88 | 2003 | UR: deletion of segment 1q44–1qter and duplication of segment 12p13.3–12pter | 2 | 2 | – | Unilateral perisylvian PMG | |
| Leeflang et al91 | 2003 | BR: locus disruption by breakpoints at 1p12 and 6p12.2 | 1 | 1 | – | Bilateral perisylvian PMG + bilateral PNH + hypoplasia of CC | |
| Metzke-Heidemann et al89 | 2004 | UR: duplication of segments 9pter-9q22.2 and 7q35–7qter | 1 | – | 1 | Bilateral parieto-occipital PMG + caudal hypoplasia of cerebellar vermis | |
| Kogan et al90 | 2004 | UR: deletion of segment 13q14.1–13q31.2 | 1 | 1 | – | Bilateral frontotemporal PMG + left parieto-occipital PMG | |
| Leventer et al92 | 2001 | Loci on chr 1p36, 2p13, 6q25, 21q22 and 22q11 | 9 | ? | ? | PMG, not specified | |
| C Chromosomal aneuploidies associated with PMG | |||||||
| Sener et al93 | 1996 | Trisomy 13 | 1 | 1 | – | Bilateral perisylvian PMG | |
| Pascual-Castroviejo et al54 | 2001 | Duplication short arm X | 1 | – | 1 | Unilateral hemispheric PMG | |
| Tombini et al94 | 2001 | Turner mosaicism | 1 | – | 1 | Bilateral frontal PMG | |