DiGeorge syndrome - 22q11deletion - FISH
- Wessex Reg. Genetics Centre
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Description
DiGeorge syndrome. Human chromosomes stained with
fluorescent probes (fluorescence in situ
hybridisation or FISH). The probes bind to
specific sequences of DNA. There has been a
deletion in chromosome 22. A control probe marks
the telomeres of both 22 homologues. A probe from
the Tuple 1 region of the DiGeorge Syndrome
Critical Region (DGSCR) marks the hemizygous
deletion in 22a11.
The syndrome is due to the absence of the thymus
and parathyroid glands, resulting in impaired
immunity, short stature, and deformities of the
face, heart and great vessels. Also called thymic-
parathyroid aplasia.
Image by Dr John Crolla.