Particularităţile polimorfismului clinic şi citogenetic în sindromul turner
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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

Particularităţile polimorfismului clinic şi citogenetic în sindromul turner

Pag. 37-43

Sprincean Mariana12, Barbova Natalia21, Halabudenco Elena1, Mişina Ana1, Samoilenco Tatiana1
 
1 Centrul Naţional de Sănătate a Reproducerii şi Genetică Medicală,
2 Universitatea de Stat de Medicină şi Farmacie „Nicolae Testemiţanu“
 
Disponibil în IBN: 17 octombrie 2017


Rezumat

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..  

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 X – 45,X встречается в 53% случаев.

Cuvinte-cheie
Turner syndrome, medical genetic counseling, Diagnosis,

karyotype.

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