Whole Genome Sequencing of Two Family Trios with 22q.11.2 Deletion Syndrome

Two subjects with 22q11.2 deletion syndromes (22q11DS) and their parents were recruited for a whole genome sequencing study to identify candidate genetic modifiers of the various phenotypes seen in 22q11DS. Both probands had a typical 3 megabase deletion on chromosome 22q11.2 but discordant phenotypes.

• Type: Parent-Offspring Trios
• Archiver: The database of Genotypes and Phenotypes (dbGaP)