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Genetic testing for autistic spectrum disorders
https://doi.org/10.25557/2073-7998.2020.04.78-79
Abstract
According to American Academy of Pediatrics recent guidelines, each family with a child diagnosed with autistic spectrum disorder should be reffered to a medical geneticist and offered genetic tests. However, an optimal genetic testing algorithm has yet to be developed. This study was conducted to compare abilities of different molecular-genetic methods to detect genetic factors of autistic spectrum disorders.
Keywords
расстройства аутистического спектра,
экзом,
секвенирование,
хромосомный микроматричный анализ,
FMR1,
кариотип,
CNV,
autistic spectrum disorders,
exome,
chromosomal microarray,
karyotype,
sequencing,
FMR1,
CNV
About the Authors
E. A. Pomerantseva
Centre of Genetics and Reproductive Medicine “Genetico”
Russian Federation
A. A. Isaev
Centre of Genetics and Reproductive Medicine “Genetico”
Russian Federation
A. P. Esakova
Centre of Genetics and Reproductive Medicine “Genetico”; A.I. Yevdokimov Moscow State University of Medicine and Dentistry of the Ministry of Health of the Russian Federation
Russian Federation
I. V. Povolotskaya
Centre of Genetics and Reproductive Medicine “Genetico”
Russian Federation
E. V. Denisenkova
Centre of Genetics and Reproductive Medicine “Genetico”
Russian Federation
N. V. Vetrova
Centre of Genetics and Reproductive Medicine “Genetico”
Russian Federation
J. O. Grigorieva
Centre of Genetics and Reproductive Medicine “Genetico”; A.I. Yevdokimov Moscow State University of Medicine and Dentistry of the Ministry of Health of the Russian Federation
Russian Federation
E. V. Musatova
Centre of Genetics and Reproductive Medicine “Genetico”
Russian Federation
For citations:
Pomerantseva E.A.,
Isaev A.A.,
Esakova A.P.,
Povolotskaya I.V.,
Denisenkova E.V.,
Vetrova N.V.,
Grigorieva J.O.,
Musatova E.V.
Genetic testing for autistic spectrum disorders. Medical Genetics. 2020;19(4):78-79.
(In Russ.)
https://doi.org/10.25557/2073-7998.2020.04.78-79
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