====== 22q11.2 Distal Deletion Syndrome ======
contrast to [[digeorge_syndrome|DiGeorge Syndrome]]

====Main Features====
  * Facial dysmorphism, growth delay, developmental delay, and mild skeletal abnormalities
====Eye Findings====
  * 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 [[digeorge_syndrome|22q11.2 deletion syndrome]], including minor craniofacial and ocular anomalies.
====Other Findings====
  * Cleft Palate
  * Cardiovascular malformations
====Etiology====
  * 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.

====Resources====
  - [[https://medlineplus.gov/genetics/condition/22q112-deletion-syndrome/|Medline Plus]]
  - [[https://www.ncbi.nlm.nih.gov/books/NBK1523/|Gene Reviews]]
  - [[https://pubmed.ncbi.nlm.nih.gov/27189754/|22q11.2 Deletion Syndrome. McDonald-McGinn DM et al. Nat Rev Dis Primers 2016;1:15071]][[https://1drv.ms/b/c/31d83ae8e55e0542/EU8oB5VtUoJOgCwiO0yjK8IBon0vaHoaikwiwmCpETN0Kg?e=u9lePW|-]]
  - [[https://pubmed.ncbi.nlm.nih.gov/30565249/|Chromosome 22q11.2 deletion syndrome and DiGeorge syndrome. Sullivan KE. Immunol Rev. 2019;287(1):186-201]]
  - [[https://pubmed.ncbi.nlm.nih.gov/18179902/|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]][[https://1drv.ms/b/c/31d83ae8e55e0542/EYWY46ch_AVImK-53uxNBHsBTKF6oBRHQvljDpWulBhw8A?e=u0X5p4 |-]]

{{tag>syndrome}}