Chromosome 22q11.2 Deletion

Also known as: chromosome 22q11.2 deletion syndrome, 22q11.2 deletion syndrome, DiGeorge syndrome, Distal Chromosome 22q11.2 Deletion Syndrome.

What is chromosome 22q11.2 deletion?

Chromosome 22q11.2 deletion is a disorder that occurs when a small part of chromosome 22 is missing at birth. It leads to a wide variety of complications in children born with the disorder.

What causes chromosome 22q11.2 deletion?
The missing portion of chromosome 22 is the direct cause of the disorder. However, researchers aren’t exactly sure why this occurs.

What are the symptoms of chromosome 22q11.2 deletion?
A wide variety of symptoms are related to chromosome 22q11.2 deletion. They include:
  • Cleft palate
  • Heart abnormalities
  • Feeding difficulties
  • Hearing loss
  • Developmental delays
  • Immune problems
  • Endocrine – low calcium
 

What are chromosome 22q11.2 deletion care options?

There is no cure for chromosome 22q11.2 deletion. Typically, therapies and treating the symptoms related to the condition.

Reviewed by: Parul B Jayakar, MD

This page was last updated on: 6/21/2019 2:24:47 AM

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