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, Cagatay; Saglam, Mutlu; Demirbas, Seref; Thompson, Peter; Upadhyaya, Meena; Consoli, Claudia; Ulucan, Hakan; Koz, Cem; DURUKAN, Ali; Bozkurt, Ali; Koc, Bayram; Kocar, Ismail; Gul, Davut

doi:10.1097/00019605-200307000-00012

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 C., Saglam M., Demirbas S., Thompson P., Upadhyaya M., Consoli C., ...Daha Fazla

Clinical Dysmorphology, cilt.12, sa.3, ss.199-201, 2003 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 12 Sayı: 3
Basım Tarihi: 2003
Doi Numarası: 10.1097/00019605-200307000-00012
Dergi Adı: Clinical Dysmorphology
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.199-201
Anahtar Kelimeler: neurofibromatosis type 1, mental retardation, optic disc drusen, retinal detachment, osteoid osteoma, marfanoid habitus, Erlenmeyer flask deformity, osteoporosis, retarded bone age, dural ectasia
Sağlık Bilimleri Üniversitesi Adresli: Evet

Özet

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. © 2003 Lippincott Williams & Wilkins.