22q11.2 Deletion Syndrome Resources

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22q.11.2 deletion syndrome, is a rare disorder that is caused by a deletion in chromosome 22 located specifically in the middle of the chromosome in the area referred to as q.11.2. This syndromes affects 1 out of 4000 people and signs and symptoms include, developmental delays, poor muscle tone, learning development, feeding issues and hearing loss.

Similar Names

  • Cayer Cardiofacial Syndrome
  • Conotruncal Anomaly Face Syndrome(CTAF)
  • DiGeorge Syndrome (DGS)
  • Microdeletion 22q11.2
  • Monosomy 22q.11
  • Opitz G/BBB Syndrome
  • Sedlackova Syndrome
  • Shprintzen Syndrome
  • Takao Syndrome
  • Velo-Cardio-Facial Syndrome (VCFS)

History

  • 1955- First appear in medical literature by Dr. Eva Sedlackova who described a number of cases of children with hypernasal speech and reduced facial animations.
  • 1965- Dr. Angelo DiGeorge described congenital absence of the thymus gland in 4 patients.
  • 1968- Dr William Strong reported an association of cardiac abnormalities.
  • 1981- Dr. Shimizu of Japan noticed similarities between patients diagnosed with CTAF and DiGeorge Syndrome
  • 1982- Dr’s Richard Kelley, Elaine Zacker and Beverly Emanuel at the Children’s Hospital in Philadelphia discovered that some patients had a rearrangement of chromosome 22 thus causing a piece of the long arm (q11.2) to be missing

Associated Conditions

  • cardiac anomalies
  • cleft palate
  • kidney abnormalities
  • language delays
  • learning challenges
  • developmental delays
  • feeding disorders
  • autism
  • adhd

Educational Issues

Areas of Strength
  • Math Calculations
  • Rote Memory
  • Long-Term Memory
  • Computer Skills
  • Hands on Learning
Learning Challenges
  • Poor Working and short term memory
  • Difficulty with math reasoning
  • Difficulty with reading comprehension
  • Fine motor and perceptional skills
Factors Leading to Learning
  • Motivation and attention

  • Intensity

  • Cross training

  • Adapting

Here is a list of resources that provide information on 22q.11.2 deletion syndrome:

Medical Sites

Cincinnati Children’s Hospital
Genetics Home Reference
Mayo Clinic (DiGeorge Syndrome)
Medscape (DiGeorge Syndrome)
Medscape (VCFS)
Seattle Children’s Hospital
National Organization for Rare Diseases

Organizations

The International 22q.11.2 Foundation
Velo-Cardio-Facial Syndrome Educational Foundation
Dempster Family Foundation

 

 

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