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Using high-throughput sequencing to diagnose causes of cerebral palsy

https://doi.org/10.25557/2073-7998.2020.04.75-77

Abstract

Cerebral palsy (CP) is a common, clinically heterogeneous group of disorders affecting movement and posture. It was assumed that the genetic etiology of CP does not exceed 2%. The aim of this work is to determine the effectiveness of high-throughput sequencing for diagnosing the causes of CP. In our study, a genetic etiology was found in 31.8% of patients with CP, a possible cause was identified in 17.5% of patients with CP.

About the Authors

V. Yu. Udalova
LLC Genomed
Russian Federation


I. V. Kanivets
LLC Genomed
Russian Federation


D. V. Pyankov
LLC Genomed
Russian Federation


I. F. Komarkov
LLC Genomed
Russian Federation


S. A. Korostelev
I.M. Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University)
Russian Federation


Review

For citations:


Udalova V.Yu., Kanivets I.V., Pyankov D.V., Komarkov I.F., Korostelev S.A. Using high-throughput sequencing to diagnose causes of cerebral palsy. Medical Genetics. 2020;19(4):75-77. (In Russ.) https://doi.org/10.25557/2073-7998.2020.04.75-77

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ISSN 2073-7998 (Print)