The case of rare genetic mutation in a child with the Wolf–Hirschhorn syndrome from the family irradiated during the Chernobyl accident
https://doi.org/10.21508/1027-4065-2019-64-5-104-108
Abstract
Wolf – Hirschhorn syndrome is a rare genetic disease caused by the deletion of the end of the short arm of the 4th chromosome; it is manifested by numerous congenital malformations, delayed physical and psychomotor development. The article describes clinical experience of managing a patient with Wolff – Hirschhorn syndrome born to exposed parents who lived in a territory contaminated with radionuclides after the Chernobyl accident. The article describes pathogenetic aspects of the development of the disease and the need for timely diagnostics.
About the Authors
M. P. Safonova
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University
Russian Federation
Moscow
Russian Federation
Moscow
A. E. Sipyagina
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University
Russian Federation
Moscow
Russian Federation
Moscow
L. S. Baleva
Veltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University
Russian Federation
Moscow
Russian Federation
Moscow
I. V. Kanivets
Genomed
Russian Federation
Moscow
Russian Federation
Moscow
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For citations:
Safonova M.P., Sipyagina A.E., Baleva L.S., Kanivets I.V. The case of rare genetic mutation in a child with the Wolf–Hirschhorn syndrome from the family irradiated during the Chernobyl accident. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2019;64(5):104-108. (In Russ.) https://doi.org/10.21508/1027-4065-2019-64-5-104-108
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