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Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1–p23.1, 4q21.21–q22.1, 6q26–q27, and 21q2
Author(s) -
Dobyns William B.,
Mirzaa Ghayda,
Christian Susan L.,
Petras Kristin,
Roseberry Jessica,
Clark Gary D.,
Curry Cynthia J.R.,
McDonaldMcGinn Donna,
Medne Livija,
Zackai Elaine,
Parsons Julie,
Zand Dina J.,
Hisama Fuki M.,
Walsh Christopher A.,
Leventer Richard J.,
Martin Christa L.,
Gajecka Marzena,
Shaffer Lisa G.
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32293
Subject(s) - polymicrogyria , penetrance , biology , genetics , expressivity , chromosome , gene , phenotype , neuroscience , epilepsy
Polymicrogyria is a malformation of cortical development characterized by loss of the normal gyral pattern, which is replaced by many small and infolded gyri separated by shallow, partly fused sulci, and loss of middle cortical layers. The pathogenesis is unknown, yet emerging data supports the existence of several loci in the human genome. We report on the clinical and brain imaging features, and results of cytogenetic and molecular genetic studies in 29 patients with polymicrogyria associated with structural chromosome rearrangements. Our data map new polymicrogyria loci in chromosomes 1p36.3, 2p16.1–p23, 4q21.21–q22.1, 6q26–q27, and 21q21.3–q22.1, and possible loci in 1q44 and 18p as well. Most and possibly all of these loci demonstrate incomplete penetrance and variable expressivity. We anticipate that these data will serve as the basis for ongoing efforts to identify the causal genes located in these regions. © 2008 Wiley‐Liss, Inc.