medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2022.04.38-44medgen-2052Research ArticleКЛИНИЧЕСКИЙ СЛУЧАЙCLINICAL CASEКлиническое наблюдение: микродупликация на длинном плече х-хромосомы Xq13.3q21.1 у плода женского полаXq13.3-q21.1 microduplication in a female fetus: a case reportСвиреповаК. А.SvirepovaK. A.kseswi@yandex.ruКузнецоваМ. В.KuznetsovaM. V.noemail@neicon.ruКаретниковаН. А.KaretnikovaN. A.noemail@neicon.ruТрофимовД. Ю.TrofimovD. Yu.noemail@neicon.ruФГБУ «Национальный медицинский исследовательский центр акушерства, гинекологии и перинатологии имени академика В.И. Кулакова» Минздрава РоссииРоссияNational medical research center for obstetrics, gynecology and perinatology named after academician V.I.KulakovRussian Federation2022050720222143844Copyright © Свирепова К.А., Кузнецова М.В., Каретникова Н.А., Трофимов Д.Ю., 20222022Свирепова К.А., Кузнецова М.В., Каретникова Н.А., Трофимов Д.Ю.Svirepova K.A., Kuznetsova M.V., Karetnikova N.A., Trofimov D.Y.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/2052

Представлено клиническое наблюдение, иллюстрирующее сложность выбора тактики ведения беременности при выявлении участка дупликации хромосомы Х на этапе пренатальной диагностики. Хромосомная перестройка 46,ХХ,dup(X)(q13.3q21.1) диагностирована при молекулярном кариотипировании околоплодных вод у плода женского пола с особенностями фенотипа: полидактилией левой кисти, полидактилией правой кисти под сомнением, гиперэхогенном кишечнике.

We presented a clinical case report about the complexity of the choice of pregnancy management when identifying the X-chromosome duplication using prenatal diagnostic methods. Thus, a chromosomal rearrangement dup(X)(q13.3q21.1) was diagnosed by molecular karyotyping of amniotic fluid in a female fetus with phenotype features: left hand polydactyly, right hand polydactyly in question, hyperechoic intestine.

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