medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2024.08.50-57medgen-2530Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL RESEARCHТканеспецифичность соматического мозаицизма при конституциональной трисомии хромосомы 8Tissue specificity of somatic mosaicism in constitutional trisomy of chromosome 8ШиловаН. В.ShilovaN. V.

Шилова Надежда Владимировна

115522 г. Москва, ул. Москворечье, д.1

Shilova Nadezda

1 Moskvorechye st., Moscow, 115522

nvsh05@mail.ruМиньженковаМ. Е.MinzhenkovaM. E.

Миньженкова М. Е.

115522 г. Москва, ул. Москворечье, д.1

Minzhenkova M. E.

1 Moskvorechye st., Moscow, 115522

МарковаЖ. Г.MarkovaZh. G.

Маркова Ж. Г.

115522 г. Москва, ул. Москворечье, д.1

Markova Zh. G.

1 Moskvorechye st., Moscow, 115522

ВасильевП. А.VasilievP. A.

Васильев П. А.

115522 г. Москва, ул. Москворечье, д.1

Vasiliev P. A.

1 Moskvorechye st., Moscow, 115522

ТабаковВ. Ю.TabakovV. Yu.

Табаков В. Ю.

115522 г. Москва, ул. Москворечье, д.1

Tabakov V. Yu.

1 Moskvorechye st., Moscow, 115522

 

МатющенкоГ. Н.MatuschenkoG. N.

Матющенко Г. Н.

115522 г. Москва, ул. Москворечье, д.1

Matuschenko G. N.

1 Moskvorechye st., Moscow, 115522

ФГБНУ Медико-генетический научный центр имени академика Н.П. БочковаРоссияResearch Centre for Medical GeneticsRussian Federation2024271020242385057Copyright © Шилова Н.В., Миньженкова М.Е., Маркова Ж.Г., Васильев П.А., Табаков В.Ю., Матющенко Г.Н., 20242024Шилова Н.В., Миньженкова М.Е., Маркова Ж.Г., Васильев П.А., Табаков В.Ю., Матющенко Г.Н.Shilova N.V., Minzhenkova M.E., Markova Z.G., Vasiliev P.A., Tabakov V.Y., Matuschenko G.N.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/2530Введение

Введение. Конституциональная трисомия по хромосоме 8 – редкая хромосомная аномалия, точная частота которой неизвестна. Регулярная трисомия по хромосоме 8 является причиной гибели эмбриона и, как правило, может быть обнаружена в материале спонтанных абортов. Практически во всех случаях трисомии по хромосоме 8 у пациентов выявляют соматический мозаицизм. Частота мозаичной трисомии 8 составляет примерно 1:25 000–50 000 новорожденных и характеризуется крайней фенотипической вариабельностью. Представлены два случая, демонстрирующие тканеспецифичность соматического мозаицизма конституциональной трисомии хромосомы 8 при наличии и отсутствии клинически значимых аномалий фенотипа.

Цель

Цель: оценить распределение и уровень соматического мозаицизма в тканях, имеющих различное эмбриональное происхождение, при мозаичной трисомии хромосомы 8 у двух пациентов с аномальным и нормальным фенотипом.

Методы

Методы. Стандартное цитогенетическое  исследование, флуоресцентная in situ гибридизация (FISH).

Результаты

Результаты. Уровень аномального клона при мозаичной конституциональной трисомии хромосомы 8 и характер его распределения в различных тканях отличается у пациента с аномалиями фенотипа и нарушением интеллектуального развития от такового при отсутствии клинически значимых аномалий фенотипа. Отмечена изменчивость уровня соматического мозаицизма в пределах тканей, происходящих из одной и той же эмбриональной линии. Учитывая тканеспецифичность соматического мозаицизма по трисомии хромосомы 8, необходимо молекулярно-цитогенетическое исследование тканей, имеющих происхождение из различных зародышевых листков при обнаружении аномального клона в клетках одной ткани.

Background

Background. Constitutional trisomy 8 is a rare chromosomal abnormality in man. The exact incidence of trisomy 8 in live births remains unknown. Trisomy 8 is defined as the presence of three copies of chromosome 8 in every cell of an individual’s body—a condition that is usually causes the embryo death and is often detected in human spontaneous abortions. In instances of live births, trisomy 8 is predominantly associated with somatic mosaicism, with an estimated prevalence of 1:25 000 to 1:50,000, whose clinical presentation has a wide phenotypic variability Two cases are presented, demonstrating the tissue specificity of somatic mosaicism in constitutional trisomy 8, both in the presence and absence of clinically significant phenotypic abnormalities.

Aim

Aim: to assess the distribution and level of somatic mosaicism in tissues of different embryonic origins in mosaic trisomy 8 in two patients with abnormal phenotype and without specific clinical features.

Methods

Methods: conventional cytogenetic study, fluorescence in situ hybridization (FISH).

Results

Results. The level of the abnormal clone in mosaic constitutional trisomy 8, as well as its distribution across various tissues, exhibited notable differences in a patient presenting with phenotype abnormalities and intellectual disability compared to case lacking clinically significant phenotype anomalies. It was observed that variability in the level of somatic mosaicism within tissues derived from the same embryonic lineage exists. Considering the tissue-specific nature of somatic mosaicism associated with trisomy 8, it is essential to investigate tissues originating from different germ layers when an abnormal clone is identified in the cells of a particular tissue.

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