A rare case of patient with neurofibromatosis type 1 in a
genotype-phenotype correlation revealing a submicroscopic deletion on
the long arm of chromosome 17
- Vityala Yethindra
, - Tugolbai Tagaev,
- Elmira Mainazarova,
- Cholpon Dzhumakova,
- Asel Namazbekova
Tugolbai Tagaev
I K Akhunbaev Kyrgyz State Medical Academy
Author ProfileCholpon Dzhumakova
National Center of Oncology and Hematology
Author ProfileAsel Namazbekova
National Center of Oncology and Hematology
Author ProfileAbstract
We are reporting a case of neurofibromatosis type 1 in a
genotype-phenotype correlation and chromosomal microarray test revealed
a submicroscopic deletion on the long arm of chromosome 17, which is
associated with a more severe phenotype. The presence of a more severe
phenotype warrants precise monitoring of complications.16 Jan 2021Submitted to Clinical Case Reports 16 Jan 2021Submission Checks Completed
16 Jan 2021Assigned to Editor
08 Feb 2021Reviewer(s) Assigned
19 Feb 2021Review(s) Completed, Editorial Evaluation Pending
01 Mar 2021Editorial Decision: Accept
