Conţinutul numărului revistei |
Articolul precedent |
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835 16 |
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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<meta name="citation_title" content="Particularităţile polimorfismului clinic şi citogenetic în sindromul turner"> <meta name="citation_author" content="Sprincean Mariana"> <meta name="citation_author" content="Barbova Natalia"> <meta name="citation_author" content="Halabudenco Elena"> <meta name="citation_author" content="Mişina Ana"> <meta name="citation_author" content="Samoilenco Tatiana"> <meta name="citation_publication_date" content="2013/04/01"> <meta name="citation_journal_title" content="Buletin de Perinatologie"> <meta name="citation_volume" content="57"> <meta name="citation_issue" content="1"> <meta name="citation_firstpage" content="37"> <meta name="citation_lastpage" content="43"> <meta name="citation_pdf_url" content="https://ibn.idsi.md/sites/default/files/imag_file/Particularitatile%20polimorfismului%20clinic%20si%20citogenetici%C3%AEn%20sindromul%20turner.pdf">