22q deletion syndrome(s)
A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands.
Cause[edit | edit source]
Also called Digeorge syndrome, it is associated with abnormalities of chromosome 22.
Other names[edit | edit source]
Also known as Digeorge anomaly.
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Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.- Autosomal dominant disorders
- IUIS-PID table 3 immunodeficiencies
- Noninfectious immunodeficiency-related cutaneous conditions
- Syndromes affecting the heart
- Autosomal monosomies and deletions
- Chromosomal abnormalities
- Genetic anomalies
- Syndromes affecting teeth
- Syndromes with craniofacial abnormalities
- Medical mnemonics
Contributors: Prab R. Tumpati, MD, Dr.T
