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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Ring Chromosome 22 Resources

Ring Chromosome 22 is a rare genetic condition caused by an abnormal chromosome 22 that forms a ring which causes both arms of the chromosome to break. Below are some resources on Ring Chromosome.

  1. WEBMD
  2. Genetics Home Reference
  3. Wikipedia
Organizations
  1. Chromosome 22 Central
  2. Ring22.org

 

January is National Birth Defects Prevention Month

Did you know that…….

  • Birth defects affect 1 in 33 babies..
  • Every 4.5 minutes a baby is born with a birth defect..

January is designated as the National Birth Defects Prevention Month.

Resources

Data & Statistics

Centers for Disease Control and Prevention

Key Findings: Estimates for selected birth defects in the United States, 2004-2006

Physicians Committee

March of Dimes Global Report on Birth Defects

World Health Organization (WHO) Congenital Anomalies

Causes

MedicineNet.com

Healthline

Centers for Disease Control and Prevention (CDC)

National Awareness Resources

Ten things you need to know about birth defects

2015 Birth Defects Prevention Resources

2015 Autism Conferences Links

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Association for Behavior analysis Ninth Annual Autism Conference

Association for Science in Autism Treatment

Autism Avenue 2015 Annual Southeastern Conference and Expo

Autism Society- 46th Annual Autism Society National Conference

Autism Society_Northwest Ohio

Center for Autism and Related Disabilities Annual Statewide Conference

Council for Exceptional Children- Division on Autism and Developmental Disabilities

Autism Society of North Carolina

International Society for Autism Research

South Asia International Autism Conference