microdeletion 22 q11 Chromosome 22
Chromosomal disorders, including DIGEORGE SYNDROME, where a portion of the long arm of chromosome 22 is deleted, resulting in a variety of growth, anatomical, cardiovascular and developmental abnormalities due to insufficiency of the TBX1 gene. OMIM: 188400
Also Known As:
Chromosome 22, microdeletion 22 q11; Microdeletion 22 q11
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Disease Context: Research Results