Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5906782 | Gene | 2013 | 15 Pages |
Abstract
⺠We report a 4-year-old boy with a de novo 3.7 Mb deletion of 2p14-p15. ⺠Comparison with patients reported previously points to a new microdeletion syndrome. ⺠These deletions are separated from deletions responsible for the 2p15-p16.1 syndrome. ⺠The 2p14-p15 deletions harbor candidate intellectual disability genes.
Keywords
COMMD1SROMEIS1DGVDatabase of chromosomal imbalance and phenotype in humans using Ensembl Resourcesfragile X mental retardation 1Fmr1RAB1ASNP arrayMRIstandard deviationdevelopmental delayMagnetic resonance imagingcopy number variationhead circumferencefluorescence in situ hybridizationDECIPHERFishmegabaseintellectual disabilitypolymerase chain reactionPCRDatabase of genomic variantsSingle nucleotide polymorphismSNP
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Authors
Miroslava Hancarova, Sarka Vejvalkova, Marie Trkova, Jana Drabova, Alzbeta Dleskova, Marketa Vlckova, Zdenek Sedlacek,