Chromosomes 22q11 deletion syndrome: an update and review for the primary pediatrician.

  title={Chromosomes 22q11 deletion syndrome: an update and review for the primary pediatrician.},
  author={Janet A. Thomas and J. M. Graham},
  journal={Clinical pediatrics},
  volume={36 5},
Chromosome 22q11 deletion syndrome is a relatively newly described syndrome that encompasses the majority of patients previously felt to have velo-cardio-facial syndrome, DiGeorge syndrome, and conotruncal anomaly face syndrome. The disorder is characterized by a deletion of band 11 on the long arm of chromosome 22 most often recognized by fluorescent in situ hybridization (FISH) techniques. Extensive laboratory investigations are currently ongoing to uncover the specific genes involved and… CONTINUE READING


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