Article
Genomic imbalances in mental retardation.
Journal of medical genetics - 1 Apr 2004
Kriek M, White S J, Bouma M C, Dauwerse H G, Hansson K B M, Nijhuis J V, Bakker B, van Ommen G-J B, den Dunnen J T, Breuning M H
Abstract excerpt
INTRODUCTION: It has been estimated that cytogenetically visible rearrangements are present in approximately 1% of newborns. These chromosomal changes can cause a wide range of deleterious developmental effects, including mental retardation (MR). It is assumed that many other cases exist where the cause is a submicroscopic deletion or duplication. To facilitate the detection of such cases, different techniques...
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