Naslov
Supravalvulular aortic stenosis and peripheral pulmonary stenosis in family with balanced translocation t(7 ; 14) and break point that has split the elastin region

Autori
Malčić, Ivan ; Kniewald, Hrvoje ; Lasan, Ružica ; Begović, Davor ; Hitrec, Vlasta ; Dilber, Daniel ; Marija, Jelušić

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

Izvornik
Knjiga sažetaka / Malčić, Ivan - Zagreb : Hrvatsko društvo za dječju kardiologiju i reumatologiju, 2003

Skup
Drugi simpozij Hrvatskog društva za dječju kardiologiju i reumatologiju s međunarodnim sudjelovanjem

Mjesto i datum
Zagreb, Hrvatska, 13.11.2003. - 15.11.2003

Vrsta sudjelovanja
Predavanje

Vrsta recenzije
Domaća recenzija

Ključne riječi
Supravalvular aortic stenosis; translocation t(7; 14); break of elastin region

Sažetak
We are presenting a family form of balanced translocation t(7 ; 14) found in mother and two sons. Mother had aortic cardiac murmur, without hemodinamical repercusions, children had almost identical clinical findings, significant supravalvular aortic stenosis, left ventricle intracavitary stenosis and multiple peripheral pulmonary stenosis but with no other clinical manifestatation of Williams-Beuren syndrome, except, perhaps, deep, metalic voice. The conventional chromosome analysis unexpectedly revealed a balanced translocation beetwen chromosomes 7 and 14, the same translocation was found in the mother and both of the children. Subsequent FISH analysis with WSCR probe showed that the break point has split the elastin region in proband, mother and both of children. The proband karyotype was interpreted, according to ISCN as 46, XY, t(7 ; 14) (q11.23 ; p12). ish t(7 ; 14) (D7Z1+, ELNsp ; D14Z1/D22Z1+, ELNsp+) mat, in other words, translocation had disrupted elastin region and may contribute to developmental defects in Williams-Beuren syndrome. Going through publications, we found that such a result was not yet published in genetic examination of supravalvular aortic stenosis and Williams- Beuren syndrome or some other conditions which can not be placed in any of these two terminal cathegories because of various phenotype characteristics.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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