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Familial presentation of balanced translocation t(7 ; 14) with split in elastin region


Kniewald, Hrvoje; Malčić, Ivan; Lasan, Ružica; Hitrec, Vlasta; Novick, W.M.; Jelusic, Marija
Familial presentation of balanced translocation t(7 ; 14) with split in elastin region // Cardiology in the Young / Anderson, Robert H. (ur.).
London: Greenwich Medical Media, 2001. (poster, međunarodna recenzija, sažetak, znanstveni)


Naslov
Familial presentation of balanced translocation t(7 ; 14) with split in elastin region

Autori
Kniewald, Hrvoje ; Malčić, Ivan ; Lasan, Ružica ; Hitrec, Vlasta ; Novick, W.M. ; Jelusic, Marija

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

Izvornik
Cardiology in the Young / Anderson, Robert H. - London : Greenwich Medical Media, 2001

Skup
The 3rd World Congress of Pediatric Cardiology and Cardiac Surgery

Mjesto i datum
Toronto, Kanada, 27-31.05.2001

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Williams syndrome; supravalvular aortic stenosis; balanced translocation

Sažetak
The conventional chromosome analysis of two brother and mother by high resolition banding unexpectedly revealed a balanced translocation between chromosome 7 and 14. Subsequent FISH analysis with WSCR and centromeric 7 probes showed that the break point has split the elastin region. The mother and her two sons carry the same translocation. The karyotype of brothers is: 46, XY, t(7 ; 14)(q11.23 ; p12).ish t(7, 14)(D7Z1, ELNsp)mat.

Izvorni jezik
Engleski



POVEZANOST RADA


Citiraj ovu publikaciju

Kniewald, Hrvoje; Malčić, Ivan; Lasan, Ružica; Hitrec, Vlasta; Novick, W.M.; Jelusic, Marija
Familial presentation of balanced translocation t(7 ; 14) with split in elastin region // Cardiology in the Young / Anderson, Robert H. (ur.).
London: Greenwich Medical Media, 2001. (poster, međunarodna recenzija, sažetak, znanstveni)
Kniewald, H., Malčić, I., Lasan, R., Hitrec, V., Novick, W. & Jelusic, M. (2001) Familial presentation of balanced translocation t(7 ; 14) with split in elastin region. U: Anderson, R. (ur.)Cardiology in the Young.
@article{article, editor = {Anderson, R.}, year = {2001}, pages = {189}, keywords = {Williams syndrome, supravalvular aortic stenosis, balanced translocation}, title = {Familial presentation of balanced translocation t(7 ; 14) with split in elastin region}, keyword = {Williams syndrome, supravalvular aortic stenosis, balanced translocation}, publisher = {Greenwich Medical Media}, publisherplace = {Toronto, Kanada} }