Rare NF1 microdeletion syndrome in an Omani patient. Issue 12 (26th October 2018)

• Record Type: Journal Article
• Authors: Al‐Araimi, Musallam; Hamza, Nishath; Al Yahmadi, Ali; Al Mazrooey, Hiba; Elsheikh, Afaf; Al Amri, Amira; Al Harrasi, Salma; Hausdorf, Lena; Mula‐Abed, Waad‐Allah
• Is Part Of: Clinical case reports. Volume 6:Issue 12(2018)
• Page Start: 2424
• Page End: 2426
• Publication Date: 2018-10-26
• Subjects: comparative genomic hybridization -- microdeletion -- neurofibromatosis type 1 -- noonan syndrome; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.1881
• Languages: English
• ISSNs: 2050-0904

Abstract

Key Clinical Message: Neurofibromatosis‐1 phenotype combined with webbed neck and short stature in a young Omani patient was revealed to be due to a de novo germ‐line heterozygous 1.7 Mb microdeletion at 17q11.2. This lead to the diagnosis of NF1 microdeletion syndrome. Abstract : Neurofibromatosis‐1 phenotype combined with webbed neck and short stature in a young Omani patient was revealed to be due to a de novo germ‐line heterozygous 1.7 Mb microdeletion at 17q11.2. This lead to the diagnosis of NF1 microdeletion syndrome.