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Original article
Towards earlier diagnosis of 22q11 deletions
  1. E S Tobias,
  2. N Morrison,
  3. M L Whiteford,
  4. J L Tolmie
  1. Yorkhill NHS Trust, Duncan Guthrie Institute of Medical Genetics, Yorkhill, Glasgow G3 8SJ, UK
  1. Dr Tobias

Abstract

Over a 7 year period, 551 patients were investigated for the presence of a chromosome 22q11 deletion by fluorescence in situ hybridisation. Analysis of the presenting features of the 67 individuals with this chromosome deletion permitted us to devise guidelines to facilitate early diagnosis.

  • 22q11 microdeletions
  • CATCH 22
  • velocardiofacial
  • DiGeorge syndrome
  • tetralogy of Fallot

https://doi.org/10.1136/adc.81.6.513

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