Article
A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development.
Developmental medicine and child neurology - 1 May 2007
Vermeer Sascha, Koolen David A, Visser Gepke, Brackel Hein J L, van der Burgt Ineke, de Leeuw Nicole, Willemsen Michèl A A P, Sistermans Erik A, Pfundt Rolph, de Vries Bert B A
Abstract excerpt
A de novo 4.1-megabase microdeletion of chromosome 1p34.2p34.3 has been identified by array-based comparative genomic hybridization in a young male with severely delayed development, microcephaly, pronounced hypotonia, and facial dysmorphism. The deleted region encompasses 48 genes, among them the glucose transporter 1 (SLC2A1 or GLUT1) gene. The deletion of the GLUT1 gene was in line with the abnormal ratio of...
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