The case of rare genetic mutation in a child with the Wolf–Hirschhorn syndrome from the family irradiated during the Chernobyl accident

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.

Keywords

• ребенок
• синдром вольфа–хиршхорна фенотип
• генотип
• задержка физического и психомоторного развития
• молекулярно-генетическая диагностика
• ген whscr