A large deletion (1.5 Mb) encompassing the neurofibromatosis type 1 (NF1) gene in a patient with sporadic NF1 associated with dysmorphism, mental retardation, and unusual ocular and skeletal features.


ULUCAN H.

CLINICAL DYSMORPHOLOGY, vol.12, pp.199-201, 2003 (Journal Indexed in SCI Expanded)

  • Publication Type: Article / Article
  • Volume: 12
  • Publication Date: 2003
  • Title of Journal : CLINICAL DYSMORPHOLOGY
  • Page Numbers: pp.199-201

Abstract

A 20 year old male patient with sporadic neurofibromatosis type 1 (NF1) is described with a large deletion (1.5 Mb) involving the NF1 gene, dysmorphism, mental retardation, and unusual ocular and skeletal features. Several NF1 patients with a large NF1 deletion and associated dysmorphism, and a large number of neurofibromas for their age have been described. This study indicates that such large deletions can also involve flanking loci which affect ocular and skeletal development.