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<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">pmj</journal-id><journal-title-group><journal-title xml:lang="ru">Тихоокеанский медицинский журнал</journal-title><trans-title-group xml:lang="en"><trans-title>Pacific Medical Journal</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">1609-1175</issn><publisher><publisher-name>TGMU</publisher-name></publisher></journal-meta><article-meta><article-id custom-type="elpub" pub-id-type="custom">pmj-1558</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>НАБЛЮДЕНИЯ ИЗ ПРАКТИКИ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>PRACTICE OBSERVATIONS</subject></subj-group></article-categories><title-group><article-title>Атипичный случай синдрома делеции длинного плеча 11-й хромосомы</article-title><trans-title-group xml:lang="en"><trans-title>Atypical case of the syndrome of the long shoulder deletion of the 11TH chromosome</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>Костырко</surname><given-names>Э. И.</given-names></name><name name-style="western" xml:lang="en"><surname>Kostyrko</surname><given-names>E. I.</given-names></name></name-alternatives><bio xml:lang="ru"/><bio xml:lang="en"/><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Прокопцева</surname><given-names>Ж. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Prokoptseva</surname><given-names>Zh. V.</given-names></name></name-alternatives><bio xml:lang="ru"/><bio xml:lang="en"/><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Дя</surname><given-names>К. Ми.</given-names></name><name name-style="western" xml:lang="en"><surname>Dya</surname><given-names>K. Mi.</given-names></name></name-alternatives><bio xml:lang="ru"/><bio xml:lang="en"/><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>Сахалинская областная больница</institution></aff><aff xml:lang="en"><institution>Sakhalin Regional Hospital</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2007</year></pub-date><pub-date pub-type="epub"><day>28</day><month>09</month><year>2007</year></pub-date><volume>0</volume><issue>3</issue><fpage>81</fpage><lpage>81</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Костырко Э.И., Прокопцева Ж.В., Дя К.М., 2007</copyright-statement><copyright-year>2007</copyright-year><copyright-holder xml:lang="ru">Костырко Э.И., Прокопцева Ж.В., Дя К.М.</copyright-holder><copyright-holder xml:lang="en">Kostyrko E.I., Prokoptseva Z.V., Dya K.M.</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.tmj-vgmu.ru/jour/article/view/1558">https://www.tmj-vgmu.ru/jour/article/view/1558</self-uri><abstract><p>.</p></abstract><trans-abstract xml:lang="en"><p>Case from practice. In the child with the mental retardation and epileptic seizures cariotyping showed the deletionof the long shoulder of the 11th chromosome. Parents and close relatives are healthy. The case differs from the classical description of similar anomalies by the absence of congenital organ anomalies and so‑called small signs.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>хромосомные аномалии</kwd><kwd>делеция de novo</kwd><kwd>фенотип</kwd></kwd-group></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><mixed-citation xml:lang="ru">Барашнев Ю.И., Бахарев В.И., Новиков П.В. Диагностика и лечение наследственных заболеваний у детей. – М. : Триада-Х, 2004.</mixed-citation><mixed-citation xml:lang="en">Барашнев Ю.И., Бахарев В.И., Новиков П.В. 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