medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2020.10.51-55medgen-1734Research ArticleКЛИНИЧЕСКИЙ СЛУЧАЙCLINICAL CASEСлучай малой сверхчисленной кольцевой хромосомы r(20)(p12q12) у мальчика трех лет с лицевыми аномалиями и речевыми нарушениямиA case of a small supernumerary ring chromosome r(20)(p12q12) in a 3-year-old boy with facial anomalies and speech delayАнтоненкоВ. Г.AntonenkoV. G.avalgen@yandex.ruСветличнаяД. В.SvetlychnayaD. V.noemail@neicon.ruМиньженковаМ. Е.MinzhenkovaM. E.noemail@neicon.ruШиловаН. В.ShilovaN. V.noemail@neicon.ruКалиненковаС. Г.KalinenkovaS. G.noemail@neicon.ruФГБНУ «Медико-генетический научный центр имени академика Н.П. Бочкова»РоссияResearch Centre for Medical GeneticsRussian FederationГБУЗМО «Московский областной научно-исследовательский клинический институт им. М.Ф.Владимирского»; ФГАОУ ВО «Первый МГМУ им И.М. Сеченова Минздрава РФ (Сеченовский Университет)»РоссияM.F. Vladimirsky research instituteRussian FederationГБУЗМО «Московский областной научно-исследовательский клинический институт им. М.Ф.Владимирского»РоссияM.F. Vladimirsky research instituteRussian Federation20201412202019105155Copyright © Антоненко В.Г., Светличная Д.В., Миньженкова М.Е., Шилова Н.В., Калиненкова С.Г., 20202020Антоненко В.Г., Светличная Д.В., Миньженкова М.Е., Шилова Н.В., Калиненкова С.Г.Antonenko V.G., Svetlychnaya D.V., Minzhenkova M.E., Shilova N.V., Kalinenkova S.G.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/1734

Представлен случай малой сверхчисленной маркерной хромосомы (мСМХ) у мальчика трех лет с лицевыми аномалиями и речевыми нарушениями. Структура маркерной хромосомы, установленная при FISH-анализе, была определена как r(20)(p12q12). Обсуждаются проблемы мСМХ, содержащих только околоцентромерные области, и вопросы корреляции генотип-фенотип.

We report on a case of small supernumerary marker chromosome (sSMC) in a 3-year boy with facial anomalies and speech delay. The constitution of marker chromosome was designated by mFISH analysis as r(20)(p12q12). The problems of diagnostics of sSMC, containing the pericentromeric regions only, and genotype-phenotype correlations are discussied.

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