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Prenatal diagnosis of complete trisomy 19q (CROSBI ID 529704)

Prilog sa skupa u časopisu | sažetak izlaganja sa skupa | međunarodna recenzija

Babić, Ivana ; Brajenović-Milić, Bojana ; Petrović, Oleg ; Mustać, Elvira ; Kapović, Miljenko Prenatal diagnosis of complete trisomy 19q // Chromosome research. 2007. str. 29-30

Podaci o odgovornosti

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

engleski

Prenatal diagnosis of complete trisomy 19q

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.

Prenatal diagnosis; complete trisomy 19q; multiple malformations

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Podaci o prilogu

29-30.

2007.

nije evidentirano

objavljeno

Podaci o matičnoj publikaciji

Chromosome research

0967-3849

Podaci o skupu

European Cytogenetics Conference (6 ; 2007)

poster

07.07.2007-10.07.2007

Istanbul, Turska

Povezanost rada

Temeljne medicinske znanosti

Indeksiranost