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Chromosome 22q11.2 Deletion Syndrome

Abstract

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NORD is very grateful to Donna M. McDonald-McGinn, MS, CGC, Associate Director, Clinical Genetics; Program Director, The "22q and You" Center, The Children's Hospital of Philadelphia, for assistance in the preparation of this report.

Synonyms of Chromosome 22q11.2 Deletion Syndrome

  • autosomal dominant Opitz G/BBB syndrome
  • Caylor cardiofacial syndrome
  • conotruncal anomaly face syndrome
  • DiGeorge syndrome
  • Shprintzen syndrome
  • velocardiofacial syndrome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Chromosome 22q11.2 deletion syndrome is associated with a range of problems including: congenital heart disease, palate abnormalities, immune system dysfunction including autoimmune disease, low calcium (hypocalcemia) and other endocrine abnormalities such as thyroid problems and growth hormone deficiency, gastrointestinal problems, feeding difficulties, kidney abnormalities, hearing loss, seizures, skeletal abnormalities, minor facial differences, and learning and behavioral differences. The symptoms of this condition are extremely variable, even among members of the same family.

Chromosome 22q11.2 deletion syndrome is a disorder caused by a small piece of chromosome 22 missing. A number of separately described diagnoses including DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), conotruncal anomaly face syndrome (CTAF), autosomal dominant OpitzG/BBB syndrome and Cayler Cardiofacial syndrome were all originally thought to be separate disorders before the chromosome 22q11. 2 deletion was identified in individuals affected with all of these conditions.

Organizations related to Chromosome 22q11.2 Deletion Syndrome

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