Clinical case of distal arthrogryposis in combination with epilepsy due to an unbalanced translocation
T. V. Kozhanova,
S. S. Zhilina,
T. I. Meshсheryakova,
N. P. Prokopyeva,
A. G. Prityko,
N. N. Zavadenko https://doi.org/10.17749/2077-8333/epi.par.con.2022.112
Abstract
The clinical case of a patient with congenital contractures of the lower and upper limbs, face, seizures, facial dysmorphias, motor disorders and psychomotor development delay is presented. The proband with Freeman–Sheldon syndrome had no mutations in genes associated with distal arthrogryposis. Chromosomal microarray analysis revealed terminal duplication of the long arm of chromosome 9 and terminal microdeletions of the short arm of chromosome 20 – 46,XX.arr[hg38]9q33.3q34.3 (127016168_138124666) x3,20p13 (259113_1003183)x1 in the de novo status. This clinical observation demonstrates an opportunity of using innovative molecular cytogenetic technologies in the search for disease-related genetic causes in the absence of mutations detected by whole exome sequencing.
About the Authors
T. V. Kozhanova
Voyno-Yasenetskiy Scientific and Practical Center of Specialized Health Care for Children
Russian Federation
Russian Federation
Tatyana V. Kozhanova – MD, PhD, Associate Professor, Senior Researcher, Genetic Group, Scientific Department, Laboratory Geneticist
Moscow
RSCI SPIN-code: 9909-4273
S. S. Zhilina
Voyno-Yasenetskiy Scientific and Practical Center of Specialized Health Care for Children
Russian Federation
Russian Federation
Svetlana S. Zhilina – MD, PhD, Associate Professor, Leading Researcher, Genetic Group, Scientific Department, Geneticist
Moscow
RSCI SPIN-code: 6153-7926.
T. I. Meshсheryakova
Voyno-Yasenetskiy Scientific and Practical Center of Specialized Health Care for Children
Russian Federation
Russian Federation
Tatyana I. Meshсheryakova – MD, PhD, Leading Researcher, Genetic Group, Scientific Department, Geneticist
Moscow
RSCI SPIN-code: 9429-0318.
N. P. Prokopyeva
Voyno-Yasenetskiy Scientific and Practical Center of Specialized Health Care for Children
Russian Federation
Russian Federation
Natalya P. Prokopyeva – MD, Head of Neuropsychiatric Department No. 2
Moscow
A. G. Prityko
Voyno-Yasenetskiy Scientific and Practical Center of Specialized Health Care for Children
Russian Federation
Russian Federation
Andrey G. Prityko – Dr. Med. Sc., Professor, Academician of Russian Academy of Natural Sciences, Director
Moscow
RSCI SPIN-code: 5045-6357
N. N. Zavadenko
Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
Nikolay N. Zavadenko – Dr. Med. Sc., Professor, Head of Badalyan Chair of Neurology, Neurosurgery and Medical Genetics, Department of Pediatrics
Moscow
RSCI SPIN-code: 5944-7629
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Review
For citations:
Kozhanova T.V., Zhilina S.S., Meshсheryakova T.I., Prokopyeva N.P., Prityko A.G., Zavadenko N.N. Clinical case of distal arthrogryposis in combination with epilepsy due to an unbalanced translocation. Epilepsy and paroxysmal conditions. 2022;14(2):214-220. (In Russ.) https://doi.org/10.17749/2077-8333/epi.par.con.2022.112
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