“22q11 Deletion Syndromes”  

22q11 Deletions

  In our body, the craniofacial abnormality, 22q11 Deletion Syndrome is a chromosome 22 health challenge with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11 encompassing several syndromes with overlapping abnormalities including craniofacial abnormalities and lymphatic abnormalities.

22q11 Deletion Syndromes

  In our body, 22q11 Deletion Syndromes are associated with many multisystemic abnormalities including digeorge syndrome (hypoplasia of thymus and parathyroids), velocardiofacial syndrome, and hypoparathyroidism short stature mental retardation.
  Examples of conditions involving deletions of the chromosomal region 22q11:

• Catch 22 syndrome
• DiGeorge syndrome
• Phelan-McDermid Syndrome
• Shprintzen syndrome
• velocardiofacial syndrome
• Kousseff syndrome

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“DiGeorge Syndrome (Hypoplasia of Thymus and Parathyroids)”  

Digeorge Syndrome

  In our body, the congenital hypoplasic dis-order, Digeorge Syndrome (Hypoplasia of Thymus and Parathyroids) is a health challenge, characterized by a wide spectrum of characteristics including the absence of the parathyroid glands (a parathyroid dis-order) and the thymus gland resulting in hypocalcemia, T-cell immunodeficiency, defects in the outflow tract of the heart, and craniofacial anomalies, associated with deletions of the chromosomal region 22q11.2. **

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“Chromosome 22, Microdeletion 22 Q11”  

  In our body, the 22q11 deletion syndrome, Chromosome 22 Microdeletion 22 Q11 is a chromosome 22 health challenge, indicative to a specific set of signs, symptoms or other health indicators, usually associated with a craniofacial abnormality. **

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