Familial presentation of balanced translocation t(7 ; 14) with split in elastin region (CROSBI ID 487613)
Prilog sa skupa u zborniku | sažetak izlaganja sa skupa | međunarodna recenzija
Podaci o odgovornosti
Kniewald, Hrvoje ; Malčić, Ivan ; Lasan, Ružica ; Hitrec, Vlasta ; Novick, W.M. ; Jelusic, Marija
engleski
Familial presentation of balanced translocation t(7 ; 14) with split in elastin region
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.
Williams syndrome; supravalvular aortic stenosis; balanced translocation
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
Podaci o prilogu
189-x.
2001.
objavljeno
Podaci o matičnoj publikaciji
Cardiology in the Young
Anderson, Robert H.
London : Delhi: Greenwich Medical Media
Podaci o skupu
The 3rd World Congress of Pediatric Cardiology and Cardiac Surgery
poster
27.05.2001-31.05.2001
Toronto, Kanada
