Naslov
De novo chromosome rearrangements in prenatal diagnosis

Autori
Crkvenac Gornik, Kristina ; Tonković Đurisević, Ivana ; Muzinić, Dubravka ; Lasan Trčić, Ružica ; Letica, Ljiljana ; Begović, Davor

Izvornik
European Journal of Human Genetics (1018-4813) 12 (2004), 1;

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, kongresno priopcenje, znanstveni

Ključne riječi
De novo chromosome rearrangements; Prenatal diagnosis

Sažetak
Balanced or unbalanced structural abnormalities may be inherited from a carrier parent or may occur as de novo rearrangements. When the abnormality occurs as a de novo event, the risk for genetic disease or phenotypic effects is increased, even when the rearrangement appears balanced. The aim of this study was to examine the incidence and clinical outcome of de novo chromosomal aberrations. Prenatal cytogenetic analyses were performed in 20, 506 pregnancies at our hospital from 1979 to 2004. Karyotyping by G-banded metaphase chromosome analysis of cultured amniotic fluid samples was performed using standard techniques. In our study we found 31 case of the de novo chromosomal rearrangements in 20, 506 cases of prenatal cytogenetic analysis. Out of the 31 de novo aberrations, 14 had balanced translocations ; 13 had balanced reciprocal translocations and 1 had balanced Robertsonian translocation. Of 17 unbalanced de novo aberrations, 10 had one structurally abnormal extra chromosome, 1 had unbalanced reciprocal translocation, 5 had unbalanced Robertsonian translocation, and 1 had a de novo inversion. All unbalanced translocations were terminated. The outcome of pregnancies and the clinical follow up of rare cases with apparently balanced de novo translocations are very helpful for a better risk assessment in prenatal genetic counselling.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

POVEZANOST RADA