Nomenclature
Old names of 22q11.2 deletion syndrome
McDonald-McGinn, DiGeorge, and Zackaiautosomal dominant Opitz G/BBB syndrome- CATCH22
- Cayler cardiofacial syndrome
- conotruncal anomaly face syndrome (CTAF)
- deletion 22q11.2 syndrome
- DiGeorge syndrome
- Sedlackova syndrome
- Shprintzen syndrome
- VCFS
- velo-cardio-facial syndrome
- velocardiofacial syndrome
Source: NIH Genetics Home Reference
The illustration on the right shows the old adage of the nearsighted veterinarians trying to describe an elephant by each examining a separate part. So too was the case of the chromosome 22q11.2 deletion syndrome when reported by individual subspecialists concentrating on specific areas of expertise, for example, endocrinology, cardiology, and speech pathology. It was not until the development of FISH studies in the early 1990s that investigators were able to see the big picture and recognize that many previously described clinical conditions were actually caused by the 22q11.2 deletion.
Illustration and caption taken from the editorial of the Special Issue on 22q11.2DS of the American Journal of Medical Genetics, published on October 31st, 2018.
For more information on the history on the study of this syndrome, please visit:
The History of 22q11.2 Deletion
Current name
In the early 1990s, researchers found that deletions in the 22q11.2 chromosomal region are responsible for the collection of syndromes listed above. Now that the unifying cause is found, researchers are encouraging everyone (individuals with the syndrome, their family members, medical professionals) to use the name
22q11.2 Deletion Syndrome
instead of the multiple descriptive but outdated names. This is the basis for the "Same Name Campaign".
Source: www.22qsociety.org/knowledge/nomenclature
The 22q11.2 Society Registered Charity No. 1165896