Whole Genome Sequencing of Two 22q11DS Trios

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.]]> Inclusion criteria: Probands diagnosed with 22q11.2 deletion syndrome and has 3 megabase deletion on chromosome 22q11.2 confirmed by fluorescence in situ hybridization. Both parents are available for DNA collection and are unaffected. Exclusion criteria: Probands with alternate or atypical 22q11.2 deletions. Parents unavailable for sequencing.]]>