Pretražite po imenu i prezimenu autora, mentora, urednika, prevoditelja

Napredna pretraga

Pregled bibliografske jedinice broj: 409510

Cytogenetic analysis of turner syndrome


Letica, L; Lasan, R; Tonković Ð; urišević, I; Crkvenac Gornik, K; Burek, M; Begović, D
Cytogenetic analysis of turner syndrome // ESHG
Barcelona, Španjolska, 2008. (poster, međunarodna recenzija, sažetak, stručni)


CROSBI ID: 409510 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Cytogenetic analysis of turner syndrome

Autori
Letica, L ; Lasan, R ; Tonković Ð ; urišević, I ; Crkvenac Gornik, K ; Burek, M ; Begović, D

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, stručni

Izvornik
ESHG / - , 2008

Skup
European HUMAN GENETICS Conference 2008

Mjesto i datum
Barcelona, Španjolska, 31.05.2008. - 03.06.2008

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Turner syndrome; Cytogenetic analysis

Sažetak
Turner syndrome is caused by the absence of all or part of the second sex chromosome. In our study on 100 female patients clinically diagnosed with Turner syndrome: 46 patients were 45, X 10 patients were mos 45, X/46, XX 2 patients were mos 45, X/47, XXX/46, XX 8 patients were mos 45, X/47, XXX 31 patients had a structurally abnormal X chromosome (mainly isochromosome, deletion p or q arm, ring X chromosome) and 2 patients had a structurally changed Y chromosome The phenotype is variable and includes short stature and gonadal dysgenesis. Mental retardation is not a feature of Turner syndrome. Conventional cytogenetical G-banding method and Fluorescence in situ hybridization technique were considered in cultured peripheral blood. Postnatal recognation of the syndrome requires genetic counselling of parents and supportive multidisciplinary treatment.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA


Projekti:
108-0000000-0049 - Zloćudne bolesti u djece (Konja, Josip, MZOS ) ( CroRIS)
108-0000000-0353 - Novi pristupi dijagnostici nasljednih bolesti (Begović, Davor, MZOS ) ( CroRIS)

Ustanove:
Medicinski fakultet, Zagreb


Citiraj ovu publikaciju:

Letica, L; Lasan, R; Tonković Ð; urišević, I; Crkvenac Gornik, K; Burek, M; Begović, D
Cytogenetic analysis of turner syndrome // ESHG
Barcelona, Španjolska, 2008. (poster, međunarodna recenzija, sažetak, stručni)
Letica, L., Lasan, R., Tonković Ð, urišević, I., Crkvenac Gornik, K., Burek, M. & Begović, D. (2008) Cytogenetic analysis of turner syndrome. U: ESHG.
@article{article, author = {Letica, L and Lasan, R and uri\v{s}evi\'{c}, I and Crkvenac Gornik, K and Burek, M and Begovi\'{c}, D}, year = {2008}, keywords = {Turner syndrome, Cytogenetic analysis}, title = {Cytogenetic analysis of turner syndrome}, keyword = {Turner syndrome, Cytogenetic analysis}, publisherplace = {Barcelona, \v{S}panjolska} }
@article{article, author = {Letica, L and Lasan, R and uri\v{s}evi\'{c}, I and Crkvenac Gornik, K and Burek, M and Begovi\'{c}, D}, year = {2008}, keywords = {Turner syndrome, Cytogenetic analysis}, title = {Cytogenetic analysis of turner syndrome}, keyword = {Turner syndrome, Cytogenetic analysis}, publisherplace = {Barcelona, \v{S}panjolska} }




Contrast
Increase Font
Decrease Font
Dyslexic Font