ssmuБюллетень сибирской медициныBulletin of Siberian Medicine1682-03631819-3684Siberian State Medical University, the Ministry of Healthcare of the Russian Federation10.20538/1682-0363-2021-1-213-217ssmu-4296Research ArticleСЛУЧАЙ ИЗ КЛИНИЧЕСКОЙ ПРАКТИКИCLINICAL CASESКлинико-генетическое описание и анализ случая хромосомного мозаицизма mos47,XY,+8/46,XYClinical genetic description and analysis of the case of chromosomal mosaicism mos47,XY,+8/46,XYНерсесянС. Л.NersesyanS L.

 врач-генетик, медико-генетическая консультация 

Россия, 650066, г. Кемерово, пр. Октябрьский, 22

22, Oktyabrskiy Av., Kemerovo, 650066, Russian Federation

РытенковаО. И.RitenkovaO. I.

 врач лабораторный генетик, медико-генетическая консультация 

Россия, 650066, г. Кемерово, пр. Октябрьский, 22

22, Oktyabrskiy Av., Kemerovo, 650066, Russian Federation

https://orcid.org/0000-0003-1169-715XВолковА. Н.VolkovA. N.

 канд. биол. наук, биолог, медико-генетическая консультация; доцент, кафедра биологии с основами генетики и паразитологии 

Россия, 650066, г. Кемерово, пр. Октябрьский, 22

Россия, 650056, г. Кемерово, ул. Ворошилова, 22а

22, Oktyabrskiy Av., Kemerovo, 650066, Russian Federation

22a, Voroshilova Str., Kemerovo, 650066, Russian Federation

volkov_alex@rambler.ruКемеровская областная клиническая больница им. С.В. БеляеваРоссияKemerovo Regional Clinical Hospital named after S.V. BelyaevRussian FederationКемеровская областная клиническая больница им. С.В. Беляева; Кемеровский государственный медицинский университетРоссияKemerovo Regional Clinical Hospital named after S.V. Belyaev; Kemerovo State Medical UniversityRussian Federation202112042021201213217Copyright © Нерсесян С.Л., Рытенкова О.И., Волков А.Н., 20212021Нерсесян С.Л., Рытенкова О.И., Волков А.Н.Nersesyan s.L., Ritenkova O.I., Volkov A.N.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://bulletin.ssmu.ru/jour/article/view/4296

 Описан клинический случай хромосомного мозаицизма у мальчика в возрасте 4 мес и 3 нед. Цитогенетический анализ лимфоцитов периферической крови ребенка позволил установить кариотип mos47,XY,+8/46,XY с приблизительно равным соотношением нормальных и аномальных клеток.  Обсуждаются патогенетические эффекты мозаичной формы  трисомии 8. Приводятся результаты обследования матери  пациента во время беременности в рамках комбинированного пренатального скрининга врожденных и наследственных болезней. Отмечается сложность пренатальной диагностики  хромосомного мозаицизма в связи с отсутствием  специфических биохимических и ультразвуковых (УЗ)  маркеров. Однако на поздних сроках беременности могут быть  обнаружены УЗ-признаки нарушения развития головного  мозга, сердца и почек, ассоциированные с хромосомной аномалией. 

 The article describes a clinical case of chromosomal mosaicism in a boy, 4 months and 3 weeks old. Cytogenetic analysis of peripheral blood lymphocytes of the child made it possible to establish the karyotype mos47,XY,+8/46,XY with an approximately equal ratio of normal and abnormal cells. The pathogenetic effects of the mosaic form of trisomy 8 are discussed. The authors discussed the results of examination of the patient’s mother during pregnancy as part of a combined prenatal screening for congenital and hereditary diseases. The difficulty in prenatal diagnosis of chromosomal mosaicism is noted and explained by the lack of specific biochemical and ultrasound markers.However, in late pregnancy, ultrasound signs of impaired development of the brain, heart and kidneys associated with a chromosomal abnormality can be detected. 

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