22q11.2 Distal Deletion Syndrome

contrast to DiGeorge Syndrome

• Facial dysmorphism, growth delay, developmental delay, and mild skeletal abnormalities

• literature on distal 22q11.2 deletions (e.g., LCR-E to LCR-F) is limited, but available case reports and series indicate that the ocular phenotype overlaps with that of the classic 22q11.2 deletion syndrome, including minor craniofacial and ocular anomalies.

• Cleft Palate
• Cardiovascular malformations

• deletions distal to the common 3 Mb deletion region associated with DiGeorge Syndrome. These deletions are typically flanked by LCR22-4 and either LCR22-5 or LCR22-6.

1. Medline Plus
2. Gene Reviews
3. 22q11.2 Deletion Syndrome. McDonald-McGinn DM et al. Nat Rev Dis Primers 2016;1:15071-
4. Chromosome 22q11.2 deletion syndrome and DiGeorge syndrome. Sullivan KE. Immunol Rev. 2019;287(1):186-201
5. 22q11.2 distal deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome. Ben-Shachar, S et al. American Journal of Human Genetics. 2008;82:214-221-