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Ultima descărcare din IBN: 2023-12-09 14:12 |
SM ISO690:2012 SPRINCEAN, Mariana, BARBOVA, Natalia, HALABUDENCO, Elena, MIŞINA, Ana, SAMOILENCO, Tatiana. Particularităţile polimorfismului clinic şi citogenetic în sindromul turner. In: Buletin de Perinatologie, 2013, nr. 1(57), pp. 37-43. ISSN 1810-5289. |
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Buletin de Perinatologie | ||||||
Numărul 1(57) / 2013 / ISSN 1810-5289 | ||||||
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Pag. 37-43 | ||||||
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Peculiarities of phenotypic manifestations in girls with Turner syndrome may recommend the diagnosis in the early neonatal period, however up to 60% of patients are not diagnosed during early childhood because of lack of complaints of family and the late visits to geneticist. Karyotype in Turner syndrome is highly variable and different, in 53% of cases being the homogeneous form or X monosomy - 45, X.. |
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Cuvinte-cheie Turner syndrome, medical genetic counseling, Diagnosis, karyotype. |
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<?xml version='1.0' encoding='utf-8'?> <oai_dc:dc xmlns:dc='http://purl.org/dc/elements/1.1/' xmlns:oai_dc='http://www.openarchives.org/OAI/2.0/oai_dc/' xmlns:xsi='http://www.w3.org/2001/XMLSchema-instance' xsi:schemaLocation='http://www.openarchives.org/OAI/2.0/oai_dc/ http://www.openarchives.org/OAI/2.0/oai_dc.xsd'> <dc:creator>Sprincean, M.L.</dc:creator> <dc:creator>Barbova, N.I.</dc:creator> <dc:creator>Halabudenco, E.</dc:creator> <dc:creator>Mişina, A.E.</dc:creator> <dc:creator>Samoilenco, T.</dc:creator> <dc:date>2013-04-01</dc:date> <dc:description xml:lang='en'><p><em>Peculiarities of phenotypic manifestations in girls with Turner syndrome may recommend the diagnosis in the early neonatal period, however up to 60% of patients are not diagnosed during early childhood because of lack of complaints of family and the late visits to geneticist. Karyotype in Turner syndrome is highly variable and different, in 53% of cases being the homogeneous form or X monosomy - 45, X..</em> </p></dc:description> <dc:description xml:lang='ru'><p><em>Присущие характеристики фенотипических проявлений у девочек с синдромом Тёрнер указывают на необходимость их диагностицирования в неонатальном периоде. Около 60% пациенток не диагностицированы в раннем детстве из-за отсутствия жалоб со стороны семьи и/или из-за позднего обращения к врачу-генетику. Преобладающий кариотип при синдроме Тёрнера - гомогенная форма, моносомия </em><em>X</em><em> – 45,</em><em>X</em><em> </em><em>встречается в 53% случаев.</em></p></dc:description> <dc:source>Buletin de Perinatologie 57 (1) 37-43</dc:source> <dc:subject>Turner syndrome</dc:subject> <dc:subject>medical genetic counseling</dc:subject> <dc:subject>Diagnosis</dc:subject> <dc:subject>karyotype.</dc:subject> <dc:title>Particularităţile polimorfismului clinic şi citogenetic în sindromul turner</dc:title> <dc:type>info:eu-repo/semantics/article</dc:type> </oai_dc:dc>