Mendelian disorders are most commonly caused by mutations identifiable by DNA sequencing. Exonic deletions and duplications can go undetected by sequencing, and their frequency in most Mendelian ...
In our laboratory, we have used HR-CGH as a screening method for cryptic chromosomal imbalances for several years. In an initial study, we found a cryptic chromosomal imbalance in 5 out of 50 patients ...
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