medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2018.10.8-14medgen-586Research ArticleНАУЧНЫЕ ОБЗОРЫREVIEWГоносомные аномалии и CNV, и их диагностикаSex chromosomes abnormalities and CNVs, and their diagnosisЧерныхВ. Б.ChernykhV. B.chernykh@med-gen.ruФГБНУ «Медико-генетический научный центр», г. Москва; ГБОУ ВПО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» МЗ РФ, г. МоскваРоссияResearch Centre for Medical genetics, Moscow; ГБОУ ВПО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» МЗ РФ, г. МоскваRussian Federation2018011020181710814Copyright © Черных В.Б., 20182018Черных В.Б.Chernykh V.B.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/586

Численные и цитогенетически идентифицируемые структурные аномалии половых хромосом, их несбалансированные микроструктурные перестройки - вариации числа копий (CNV) и генные варианты являются частой причиной нарушения формирования пола, гипогонадизма, аномалий роста, умственной отсталости, нарушений гаметогенеза и фертильности. В связи со стремительным развитием молекулярных технологий анализа генома в последние годы получены данные о «тонкой структуре» генома и его вариациях, в том числе половых хромосом, их рекомбинации и мутаций, описаны многочисленные CNV. Многообразие гоносомных мутаций, частое сочетание изменений генома различного уровня и наличие мозаицизма по половым хромосомам, а также отсутствие универсального подхода в их диагностике требует комплексного, а во многих случаях и индивидуального алгоритма медико-генетического обследования пациентов с аномалиями пола, физического и умственного развития, репродуктивной функции. В статье приведен краткий обзор аномалий половых хромосом и CNV человека, а также современные возможности их диагностики.

Numerical and cytogenetically identifiable structural abnormalities of sex chromosomes, their unbalanced microstructural rearrangements - copy number variations (CNVs) and gene variants are a common cause of disorders of sex differentiation and reproductive organs development, hypogonadism, growth abnormalities, mental retardation, defects of gametogenesis and fertility. Due to rapid development of molecular technologies of genome analysis in recent years, data on the «fine structure» of the genome and its variations, including sex chromosomes, their recombination and mutations, and numerous CNVs were obtained. The variety of gonosomal mutations, the frequent combination of changes in different levels of the genome and the presence of sex chromosome mosaicism, also as the lack of a universal approach to their diagnosis requires a comprehensive, and in many cases, an individual algorithm of medical and genetic examination of patients with abnormalities of sex development, physical and mental development, reproductive function. The article provides a brief overview of human sex chromosomes and CNVs, as well as modern possibilities of their diagnosis.

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