Article
Global brain dysmyelination with above-average verbal skills in 18q- syndrome with a 17 Mb terminal deletion.
Acta neurologica Scandinavica - 1 Aug 2006
Netzer C, Helmstaedter C, Ehrbrecht A, Engels H, Schwanitz G, Urbach H, Schröder R, Weber R G, Kornblum C
Abstract excerpt
BACKGROUND: Patients with the karyotypic finding of a terminal deletion in the long arm of chromosome 18 (18q- syndrome) commonly display cerebral dysmyelination and developmental delay. To our knowledge, all reported cases characterized by molecular analysis who had no mental retardation as confirmed by neuropsychological testing had a chromosomal breakpoint within the two most distal bands, 18q22 or 18q23,...
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