The international day of 22q11.2 deletion syndrome

22q11.2 deletion syndrome (22q11.2DS) is a disorder caused by a heterozygous microdeletion of region q11.2 of chromosome 22. It is the most common microdeletion syndrome in humans with an estimated incidence of approximately 1/4000 per live births. The spectrum of clinical manifestations in patients with this syndrome is very variable, even within the same family. Approximately, 25% of patients with 22q11.2DS develop schizophrenia. Intellectual disability is detected in approximately 45% of patients with 22q11.2DS, while ASD is seen in 14-50% of cases. STREAMLINE research project aims to study molecular mechanisms underlying intrafamilial phenotypic variability in patients with 22q11.2DS.

November 22nd, is the international day of 22q11.2 deletion syndrome. STREAMLINE team marked this day by wearing red.

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