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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

Oktenli, Cagatay1; Saglam, Mutlu2; Demirbas, Seref1; Thompson, Peter3; Upadhyaya, Meena3; Consoli, Claudia3; Ulucan, Hakan4; Koz, Cem5; Durukan, Ali Hakan6; Bozkurt, Ali7; Koc, Bayram1; Kocar, Ismail Hakki1; Gul, Davut4

doi: 10.1097/01.mcd.0000077565.66911.43
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A 20 year old male patient with sporadic neurofibromatosis type 1 (NF1) is described with a large deletion (1.5 Mb) involving theNF1 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.Clin Dysmorphol12:199-201 © 2003 Lippincott Williams & Wilkins.

1Department of Internal Medicine, Gülhane School of Medicine, Ankara, Turkey 2Department of Radiology, Gülhane School of Medicine, Ankara, Turkey 3Institute of Medical Genetics,University of Wales College of Medicine, Heath Park, Cardiff CF4 4XN,UK 4Department of Medical Genetics, Gülhane School of Medicine, Ankara, Turkey 5Department of Cardiology, Gülhane School of Medicine, Ankara, Turkey 6Department of Ophthalmology, Gülhane School of Medicine, Ankara, Turkey 7Department of Psychiatry, Gülhane School of Medicine, Ankara, Turkey

Correspondence and requests for reprints to Cagatay Oktenli, MD Department of Internal Medicine, Gülhane School of Medicine, TR-06018, Etlik, Ankara, Turkey. Tel: +90 312 304 40 05; Fax: +90 312 304 21 50; e-mail: coktenli@gata.edu.tr

Received 29 August 2002 Accepted 8 February 2003

© 2003 Lippincott Williams & Wilkins, Inc.