Chromosome 22q11.2 Deletion

Also known as: chromosome 22q11.2 deletion syndrome, 22q11.2 deletion syndrome, DiGeorge 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: 4/9/2018 11:31:50 AM

From the Newsdesk

Research Study: How your child's genetic makeup can impact the way he or she responds to certain medications
05/10/2017 — Enzymes are particularly important in the processing of medicines and drugs. They determine how our bodies are going to handle the medicines we take, and if those medicines are going to help us feel better or not. This research study includes testing the status of the CYP2D6 gene in children.