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A cytogenetic deletion, del(17)(q11.22q21.1), in a patient with sporadic neurofibromatosis type 1 (NF1) associated with dysmorphism and developmental delay.
  1. M Upadhyaya,
  2. S H Roberts,
  3. J Maynard,
  4. E Sorour,
  5. P W Thompson,
  6. M Vaughan,
  7. A O Wilkie,
  8. H E Hughes
  1. Institute of Medical Genetics, University Hospital of Wales Cardiff, UK.

    Abstract

    We report the first visible cytogenetic deletion involving the NF1 gene in a patient with sporadic neurofibromatosis, dysmorphic features, and marked developmental delay. The combined evidence of molecular and cytogenetic techniques based on dosage reduction, hemizygosity for microsatellite markers, high resolution G banding, and FISH analysis, predicts this deletion to be approximately 7 Mb in size. Our findings highlight the importance of conducting a detailed cytogenetic and FISH analysis in patients with NF1 who have additional dysmorphic features or particularly severe learning difficulties.

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