22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Gain
PanelMode of inheritanceDetails
1 panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
608363, Chromosome 22q11.2 microduplication syndrome, dysmorphic facial features, cognitive deficits, velopharyngeal insufficiency, congenital heart defects and immunologic derangement, delayed psychomotor development, growth retardation, and/or hypotonia