medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2022.11.56-58medgen-2201Research ArticleКРАТКОЕ СООБЩЕНИЕBRIEF REPORTДинамический тканеспецифичный мозаицизм кольцевой хромосомы 13Dynamic Tissue-Specific Mosaicism of a ring chromosomeШиловаН. В.ShilovaN. V.nvsh05@mail.ruМиньженковаМ. Е.MinzhenkovaM. E.noemail@neicon.ruМарковаЖ. Г.MarkovaZh. G.noemail@neicon.ruТарлычеваА. А.TarlychevaA. A.noemail@neicon.ruЮрченкоД. А.YurchenkoD. A.noemail@neicon.ruТабаковВ. Ю.TabakovV. Yu.noemail@neicon.ruБоровиковА. О.BorovikovA. O.noemail@neicon.ruФГБНУ «Медико-генетический научный центр имени академика Н.П.Бочкова»РоссияResearch Centre for Medical GeneticsRussian Federation20221301202321115658Copyright © Шилова Н.В., Миньженкова М.Е., Маркова Ж.Г., Тарлычева А.А., Юрченко Д.А., Табаков В.Ю., Боровиков А.О., 20232023Шилова Н.В., Миньженкова М.Е., Маркова Ж.Г., Тарлычева А.А., Юрченко Д.А., Табаков В.Ю., Боровиков А.О.Shilova N.V., Minzhenkova M.E., Markova Z.G., Tarlycheva A.A., Yurchenko D.A., Tabakov V.Y., Borovikov A.O.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/2201

Кольцевая хромосома 13 является редкой структурной хромосомной аномалией. Изменение структуры хромосомы из линейной в кольцевую вызывает ее митотическую нестабильность, приводящую к соматическому динамическому мозаицизму вследствие которого формируются клоны клеток с различным вторичными числовыми и структурными хромосомными перестройками. Цитогеномный анализ культивированных лимфоцитов и фибробластов кожи в представленном случае кольцевой хромосомы 13 в кариотипе пациента с задержкой физического развития, микроцефалией и аномалиями развития выявил различную структуру вторичного геномного дисбаланса, вариабельный уровень динамического мозаицизма и избирательную эволюцию кариотипа.

Ring chromosome 13 is a rare type of chromosome structural abnormalities. A change in the linear structure of the chromosome into a circular one causes its mitotic instability, leading to somatic dynamic mosaicism, which results in the formation of cell clones with various secondary numerical and structural chromosomal rearrangements. We report here a study on ring chromosome 13 instability in lymphocyte and fibroblast cultures established from a child with developmental delay, microcephaly and congenital abnormalities. The cytogenomic analysis revealed a different structure of secondary genomic imbalance, variable levels of dynamic mosaicism and selective karyotype evolution.

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The authors declare that there are no conflicts of interest present.