Significats de submicroscopic deletions en anglès

The gene is disrupted in six patients with X;autosome translocations or submicroscopic deletions; nine patients had point mutations.

Many patients suffering from developmental disorders have submicroscopic deletions or duplications affecting the copy number of dosage-sensitive genes or disrupting normal gene expression.

We report eight unrelated individuals with intellectual disability and overlapping submicroscopic deletions of 8q21.11 (0.66-13.55 Mb in size).