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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
  • +2
  • Vityala Yethindra,
  • Tugolbai Tagaev,
  • Elmira Mainazarova,
  • Cholpon Dzhumakova,
  • Asel Namazbekova
Vityala Yethindra
International Higher School of Medicine, International University of Kyrgyzstan
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Tugolbai Tagaev
I K Akhunbaev Kyrgyz State Medical Academy
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Elmira Mainazarova
Kyrgyz-Russian Slavic University
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Cholpon Dzhumakova
National Center of Oncology and Hematology
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Asel Namazbekova
National Center of Oncology and Hematology
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Abstract

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.

Peer review status:ACCEPTED

16 Jan 2021Submitted to Clinical Case Reports
16 Jan 2021Assigned to Editor
16 Jan 2021Submission Checks Completed
08 Feb 2021Reviewer(s) Assigned
19 Feb 2021Review(s) Completed, Editorial Evaluation Pending
01 Mar 2021Editorial Decision: Accept