Naslov
Prenatal diagnosis of complete trisomy 19q

Autori
Babić, Ivana ; Brajenović-Milić, Bojana ; Petrović, Oleg ; Mustać, Elvira ; Kapović, Miljenko

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

Izvornik
Abstracts of the 6th ECC in Chromosome Research. Supplement / - , 2007, 29-30

Skup
European Cytogenetics Conference (6 ; 2007)

Mjesto i datum
Istanbul, Turska, 07.07.2007. - 10.07.2007

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Prenatal diagnosis; complete trisomy 19q; multiple malformations

Sažetak
To present the first case of complete trisomy 19q, prenatally detected by ultrasound investigation. Real-time high resolution ultrasound examination was performed at 19 weeks of gestation. After termination of the pregnancy, autopsy investigation was done. GTG banding, m-FISH analysis, and FISH analysis with a 19q subtelomeric specific probe were used for identification of the fetal karyotype. Sonographic examination revealed enlarged cisterna magna, cerebellar hypoplasia and aplasia of the inferior part of the vermis, combined and bilateral kidney malformations, significant nuchal fold, absence of fetal nasal bones, and intracardial calcifications. Autopsy confirmed ultrasound findings, but also revealed situs viscerum inversus of the lungs. Fetal karyotype was defined as: 46, XY, der(21)t(19 ; 21)(q11 ; p13)mat. Trisomy 19q has been reported as a recognizable but variable syndrome. The present case pointed out some new observations, including possible association with Dandy-Walker variant, and therefore raises questions about common clinical features of the mentioned syndrome. Our ultrasound and autopsy findings will certainly contribute to better knowledge of phenotype characterization of this rare chromosomal disorder.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

POVEZANOST RADA