Rare NF1 microdeletion syndrome in an Omani patient.

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

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.

Afiliación

Al-Araimi M; National Genetic Center, Royal Hospital, Ministry of Health Muscat Oman.
Hamza N; National Genetic Center, Royal Hospital, Ministry of Health Muscat Oman.
Al Yahmadi A; National Genetic Center, Royal Hospital, Ministry of Health Muscat Oman.
Al Mazrooey H; National Genetic Center, Royal Hospital, Ministry of Health Muscat Oman.
Elsheikh A; National Genetic Center, Royal Hospital, Ministry of Health Muscat Oman.
Al Amri A; National Genetic Center, Royal Hospital, Ministry of Health Muscat Oman.
Al Harrasi S; National Genetic Center, Royal Hospital, Ministry of Health Muscat Oman.
Hausdorf L; Centogene AG Rostock Germany.
Mula-Abed WA; National Genetic Center, Royal Hospital, Ministry of Health Muscat Oman.

Clin Case Rep ; 6(12): 2424-2426, 2018 Dec.

Article en En | MEDLINE | ID: mdl-30564341

ABSTRACT

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.

Palabras clave

comparative genomic hybridization; microdeletion; neurofibromatosis type 1; noonan syndrome

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