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Updated: Aug 19, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
Towards earlier diagnosis of 22q11 deletions
E S Tobias1, N Morrison, M L Whiteford
1Yorkhill NHS Trust, Duncan Guthrie Institute of Medical Genetics, Yorkhill, Glasgow G3 8SJ, UK.
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.
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