DiGeorge Syndrome

Called...

• *22q11.2
• Velocardiofacial Syndrome, Sphrintzen
• DiGeorge Anomaly, Conotruncal Anomaly Face Syndrome
• Congenital Thymic Aplasia, Thymic Hypoplasia
• Strong Syndrome

It is...
-A relatively small deletion
-Usually sporadic
-Apparent in both physical and mental development
-Relatively frequent

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The numbers

• 1 in 4,000 or .025%
• 8.9 hours in America
• 10,000X CA Lotto
• 1250X death by bees
• = fatal flu

It happens...
-during meiosis
-usually sporadically (though it can be heritable)

It's Visible effects are...

• Cleft palate, distinctive facial features
• Delayed growth
• Hypothyroidism
• Bluish skin
• Twitching or spasms

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Some other affects are...

• Breathing problems
• Frequent infenctions
• Poor muscle tone
• Delayed infant milestones
• Behavioral issues

Once suspected...

• FISH analysis
• Dependent on case
•  Velo-Cardio-Facial Syndrome Educational Foundation
• Prevention

Miscellaneous Facts

• Autosomal dominant
• Infant mortality 4%
• Visible issues can cause poor treatment
• Developmental issues cause lifelong struggle
• "Complete" DiGeorge Syndrome