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Autoimmune cytopenias in the 22q11.2 deletion syndrome
J K Davies1, P Telfer, J D Cavenagh
1Department of Haematology, Barts and the London Trust, London, UK. j.davies@rfc.ucl.ac.uk
Abstract:
We describe two cases of recurrent autoimmune cytopenias, which were subsequently diagnosed with a 22q11.2 deletion/DiGeorge syndrome. The cases are of particular interest as both possessed limited clinical features of this syndrome, and the investigation of haematological abnormalities led to the establishment of a definitive genetic diagnosis.
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