A Deletion 22q11.2
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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 |
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B Chromosomal rearrangements
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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 |
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C Chromosomal aneuploidies associated with PMG
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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 |