New Orphanet summary reviewed by ITHACA : 22q11.2 duplication syndrome

22q11.2 duplication syndrome is a rare chromosomal anomaly characterized by an extremely variable clinical phenotype and may include heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal.

22q11.2 duplication syndrome has just been updated on Orphanet (ORPHA:1727) – september 2020 – and  the summary revised by Dr Tiffany BUSA  and Pr Nicole PHILIP for ERN ITHACA

Follow the link to read the summary