Avtor/Urednik		Babić, Ivana; Brajenović-Milić, Bojana; Petrović, Oleg; Mustać, Elvira; Kapović, Miljenko
Naslov		Prenatal diagnosis of complete trisomy 19q
Tip		članek
Vir		Prenat Diagn
Vol. in št.		Letnik 27, št. 7
Leto izdaje		2007
Obseg		str. 644-7
Jezik		eng
Abstrakt		This communication presents 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, fluorescence in situ hybridization m-(FISH) analysis, and FISH analysis with a 19q subtelomeric specific probe were used for identification of the fetal karyotype. Sonographic examination revealed an 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. Our ultrasound and autopsy findings will certainly contribute to better knowledge of phenotype characterization of this rare chromosomal disorder.
Deskriptorji		ULTRASONOGRAPHY, PRENATAL CHROMOSOMES, HUMAN, PAIR 19 ADULT PREGNANCY TRISOMY