Chromosome 22q11.2 deletion presenting with immune-mediated cytopenias, macrothrombocytopenia and platelet dysfunction.

@article{Akar2007Chromosome2D,
  title={Chromosome 22q11.2 deletion presenting with immune-mediated cytopenias, macrothrombocytopenia and platelet dysfunction.},
  author={Najwa Ali Akar and Adekunle D Adekile},
  journal={Medical principles and practice : international journal of the Kuwait University, Health Science Centre},
  year={2007},
  volume={16 4},
  pages={
          318-20
        }
}
OBJECTIVE To report a case of chromosome 22q11.2 deletion presenting with large platelets, platelet dysfunction, immune-mediated thrombocytopenia and neutropenia, in addition to other features of the disease. CASE PRESENTATION AND INTERVENTION The patient presented in the neonatal period with tetralogy of Fallot, subtle dysmorphic features and thrombocytopenia. Fluorescent in situ hybridization analysis confirmed the diagnosis of chromosome 22q11.2 deletion. Further investigations showed… CONTINUE READING

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