<?xml version="1.0" encoding="UTF-8"?>
<!DOCTYPE article PUBLIC "-//NLM//DTD JATS (Z39.96) Journal Publishing DTD v1.3 20210610//EN" "JATS-journalpublishing1-3.dtd">
<article article-type="research-article" dtd-version="1.3" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xml:lang="ru"><front><journal-meta><journal-id journal-id-type="publisher-id">medgen</journal-id><journal-title-group><journal-title xml:lang="ru">Медицинская генетика</journal-title><trans-title-group xml:lang="en"><trans-title>Medical Genetics</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">2073-7998</issn><publisher><publisher-name>Publishing House «Genius Media» LLC</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.25557/2073-7998.2020.03.60-61</article-id><article-id custom-type="elpub" pub-id-type="custom">medgen-833</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="ru"><subject>КРАТКИЕ СООБЩЕНИЯ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>BRIEF REPORT</subject></subj-group></article-categories><title-group><article-title>Опыт применения сравнительной геномной гибридизации в пренатальной диагностике</article-title><trans-title-group xml:lang="en"><trans-title>Сomparative genomic hybridization in prenatal diagnosis</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Гнетецкая</surname><given-names>В. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Gnetetskaya</surname><given-names>V. A.</given-names></name></name-alternatives><email xlink:type="simple">v.gnetetskaya@mcclinics.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Тарасова</surname><given-names>Ю. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Tarasova</surname><given-names>J. A.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Кузнецова</surname><given-names>Е. С.</given-names></name><name name-style="western" xml:lang="en"><surname>Kuznetsova</surname><given-names>E. S.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Ермакова</surname><given-names>М. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Ermakova</surname><given-names>M. A.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Ижевская</surname><given-names>В. Л.</given-names></name><name name-style="western" xml:lang="en"><surname>Izhevskaya</surname><given-names>V. L.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-2"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>Медико-генетический центр группы компаний «Мать и дитя»</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Medical Genetics center, Group of companies «Mother and child»</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>ФГБНУ «Медико-генетический научный центр имени академика Н.П. Бочкова»</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Research Centre for Medical Genetics</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2020</year></pub-date><pub-date pub-type="epub"><day>01</day><month>09</month><year>2020</year></pub-date><volume>19</volume><issue>3</issue><fpage>60</fpage><lpage>61</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Гнетецкая В.А., Тарасова Ю.А., Кузнецова Е.С., Ермакова М.А., Ижевская В.Л., 2020</copyright-statement><copyright-year>2020</copyright-year><copyright-holder xml:lang="ru">Гнетецкая В.А., Тарасова Ю.А., Кузнецова Е.С., Ермакова М.А., Ижевская В.Л.</copyright-holder><copyright-holder xml:lang="en">Gnetetskaya V.A., Tarasova J.A., Kuznetsova E.S., Ermakova M.A., Izhevskaya V.L.</copyright-holder><license xml:lang="ru" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>Данная работа распространяется под лицензией Creative Commons Attribution 4.0.</license-p></license><license xml:lang="en" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>This work is licensed under a Creative Commons Attribution 4.0 License.</license-p></license></permissions><self-uri xlink:href="https://www.medgen-journal.ru/jour/article/view/833">https://www.medgen-journal.ru/jour/article/view/833</self-uri><abstract><p>Молекулярное кариотипирование в нашем исследовании показало увеличение выявляемости хромосомных аберраций на 6,4% по сравнению c классическими цитогенетическими методами, однако для определения и/или уточнения природы микроскопических или субмикроскопических аномалий и для выявления сбалансированных перестроек необходимо их совместное применение.</p></abstract><trans-abstract xml:lang="en"><p>Molecular karyotyping in our study showed a 6.4% increase in the detectability of chromosomal aberrations compared to classical cytogenetic methods, but their combined application is necessary to determine and/or clarify the nature of microscopic or submicroscopic anomalies and to identify balanced rearrangements.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>пренатальная диагностика</kwd><kwd>молекулярное кариотипирование</kwd><kwd>сравнительная геномная гибридизация</kwd><kwd>микроперестройки</kwd><kwd>prenatal diagnosis</kwd><kwd>array-based comparative genomic hybridization</kwd><kwd>microdeletion</kwd><kwd>microduplication</kwd></kwd-group></article-meta></front><back><ref-list><title>References</title></ref-list><fn-group><fn fn-type="conflict"><p>The authors declare that there are no conflicts of interest present.</p></fn></fn-group></back></article>
