2003, Cilt 16, Sayı 1, Sayfa(lar) 041-044
PRENATAL DIAGNOSIS OF A FETUS WITH TRISOMY 9 MOSAICISM: ULTRASONOGRAPHIC AND CYTOGENETIC FINDINGS
Rıza Madazlı, Burak Erzik, Begüm Körbeyli, Seyfettin Uludağ, Vildan Ocak
Department of Obstetrics and Gynaecology, Cerrahpaşa School of Medicine, Istanbul University, Istanbul, Turkey
Keywords: Trisomy 9 Mosaicism, Prenatal diagnosis, Ultrasonography

We present a fetus with multiple ultrasonographic abnormalities in which prenatal diagnosis revealed trisomy 9 mosaicism in the fetal blood and complete trisomy 9 in the amniotic fluid and chorionic villi. Ultrasonographic abnormalities included micrognathia, overlapping fingers, horseshoe kidneys located at pelvis showing mild pelvicalyectasia, hypoplastic left ventricle with an echogenic foci, ventricular septal defect, pulmonary artery stenosis, diffuse perihepatic calcifications and single umbilical artery.