Assessment of the duplication`s pathogenicity detected by chromosomal microarray, in the example of two patients with Duchenne muscular dystrophy
https://doi.org/10.25557/2073-7998.2022.12.56-59
Abstract
Intragenic deletions and duplications are a major problem in the interpretation of the chromosomal microarray results in patients with suspected monogenic disease. Assessing the clinical significance and causation of such genetic variants, especially extended duplications, is difficult because CNV`s affecting one or more gene exons can have different phenotypic effects. The article presents the results of the examination of two patients with an incoming diagnosis of muscular dystrophy. Intragenic duplications in the DMD gene were diagnosed in both patients during chromosomal microarray analysis. The paper discusses the interpretation features of such CNVs and suggests recommendations for confirmation of the of muscular dystrophy genetics diagnosis.
About the Authors
Zh. G. Markova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
M. E. Minzhenkova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
I. V. Sharkova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
M. S. Petukhova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
N. V. Shilova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
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Review
For citations:
Markova Zh.G., Minzhenkova M.E., Sharkova I.V., Petukhova M.S., Shilova N.V. Assessment of the duplication`s pathogenicity detected by chromosomal microarray, in the example of two patients with Duchenne muscular dystrophy. Medical Genetics. 2022;21(12):56-59. (In Russ.) https://doi.org/10.25557/2073-7998.2022.12.56-59
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