Author/Editor		Babić, Ivana; Brajenović-Milić, Bojana; Petrović, Oleg; Mustać, Elvira; Kapović, Miljenko
Title		Prenatal diagnosis of complete trisomy 19q
Type		članek
Source		Prenat Diagn
Vol. and No.		Letnik 27, št. 7
Publication year		2007
Volume		str. 644-7
Language		eng
Abstract		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.
Descriptors		ULTRASONOGRAPHY, PRENATAL CHROMOSOMES, HUMAN, PAIR 19 ADULT PREGNANCY TRISOMY