Oktenli Cagatay, Saglam Mutlu, Demirbas Seref, Thompson Peter, Upadhyaya Meena, Consoli Claudia, Ulucan Hakan, Koz Cem, Durukan Ali Hakan, Bozkurt Ali, Koc Bayram, Kocar Ismail Hakki, Gul Davut
Clin Dysmorphol. 2003 Jul;12(3):199-201. doi: 10.1097/01.mcd.0000077565.66911.43.
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.
本文描述了一名20岁散发型1型神经纤维瘤病（NF1）男性患者，其存在一个涉及NF1基因的大片段缺失（1.5 Mb），伴有畸形、智力发育迟缓以及不寻常的眼部和骨骼特征。此前已报道了数例具有大片段NF1缺失及相关畸形且神经纤维瘤数量与其年龄不符的NF1患者。本研究表明，此类大片段缺失还可能累及影响眼部和骨骼发育的侧翼基因座。
