We determined that the intrachromosomal segmental DNA duplications flanking the WBS region (often called duplicons) are approximately 400 kb long (Fig. 1). These segmental duplications are comprised ...
The parents of 18 patients with VCFS and 22q11.2 deletion (as determined by FISH) were screened for the presence of an inversion polymorphism within the 22q11.2 deletion region. Both parents were ...