Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 140A, Issue 18, Pages 1944-1949Publisher
WILEY-LISS
DOI: 10.1002/ajmg.a.31435
Keywords
6q subtelomeric; epilepsy; FISH; mental retardation; subtelomeric deletions
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Mental retardation, facial dysmorphisms, seizures, and brain abnormalities are features of 6q terminal deletions. We have ascertained five patients with 6q subtelomere deletions (four de novo, one as a result of an unbalanced translocation) and determined the size of the deletion ranging from 3 to 13 Mb. Our patients showed a recognizable phenotype including mental retardation, characteristic facial appearance, and a distinctive clinico-neuroradiological picture. Focal epilepsy with consistent electroencephalographic features and with certain brain anomalies on neuroimaging studies should suggest 6q terminal deletion. The awareness of the distinctive clinical picture will help in the diagnosis of this chromosomal abnormality. (c) 2006 Wiley-Liss, Inc.
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