Unintended diagnosis of Von Hippel Lindau syndrome using Array Comparative Genomic Hybridization (CGH): counseling challenges arising from unexpected information.

Abstract excerpt

Array Comparative Genomic Hybridization (array CGH) is a powerful tool for identifying genomic imbalances and providing a diagnosis in individuals with a normal karyotype. It has been particularly useful in the investigation of individuals with developmental delay +/-, dysmorphic features and/or multiple congenital abnormalities. However, this non-targeted method of scanning the whole genome can reveal unexpected...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Adolescent
• Share to Chromosomes, Human, Pair 3