Velocardiofacial Syndrome (VCFS)

The term velocardiofacial syndrome (VCFS) refers to a complex, pervasive genetic disorder that results from a microdeletion of a part of chromosome 22 (i.e., submicroscopic hemizygous deletion at chromosome 22q11.2, first described in 1978). The syndrome is also called 22q11 Deletion syndrome, Shprintzen syndrome, DiGeorge syndrome, or CATCH 22 syndrome. VCFS affects at least one in 2,000–7,000 live births, making it the most common microdeletion syndrome and the second most common chromosomal defect. [Page 2037]VCFS follows an autosomal dominant inheritance pattern (i.e., a child only needs to get the affected gene from one parent in order to inherit the disease). However, only around 10% of cases are inherited; the majority of occurrences are due to random mutation. The diagnosis of VCFS is based on fluorescence ...