Description of DiGeorge syndrome
Descripción del síndrome de DiGeorge
- Date
- 1968 · confidence high
- Place
- Philadelphia, Pennsylvania, United States
- Credited to
- Angelo DiGeorge
- Field
- Life & health
What was discovered
Pediatric endocrinologist Angelo DiGeorge described in 1968 a cluster of congenital anomalies (absent thymus and parathyroids, heart defects, characteristic facial features) now known to be caused by a microdeletion on chromosome 22 (22q11.2).
The genetic basis (the 22q11.2 deletion) was not identified until 1981; until then the syndrome was defined only by its clinical features. Different teams independently described partial presentations of the same syndrome under other names (velocardiofacial, Shprintzen).
What it led to
- Identification of the 22q11.2 deletion as the genetic cause (1981)
- Prenatal and neonatal diagnosis by molecular cytogenetics
- Recognition of a spectrum of related syndromes (velocardiofacial, Shprintzen)