engleski

Prenatal diagnosis of complete trisomy 19q

This communication presents the first case of complete trisomy 21, 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.

trisomy 19; prenatal diagnosis; multiple malformations

nije evidentirano