Prenatal diagnosis of a partial trisomy 19q.
Phenotypic anomalies due to a genetic imbalance of chromosome 19 have been reported in very rare postnatal cases. Here a case of partial trisomy 19 diagnosed prenatally by ultrasonography and cytogenetic analysis is presented. Detailed evaluation by sonography showed major anomalies which could be correlated to the typical appearance of this chromosomal anomaly. Termination of pregnancy at 21 weeks of gestation was performed, and the prenatal diagnosis was confirmed postnatally by autopsy. The syndrome in this case was caused by a duplication of the long arm of chromosome 19 (46,XY, dup(19) (q13.1-->qter).
Tercanli
S
S
Department of Obstetrics and Gynecology University Hospital Basel, Schanzenstrasse 46, CH-4031 Basel, Switzerland.
Hösli
I
I
Berlinger
A
A
Beyer
R
R
Achermann
J
J
Holzgreve
W
W
D000328:Adult; D002888:Chromosomes, Human, Pair 19; D020732:Cytogenetic Analysis; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging / Q000235:genetics; D005865:Gestational Age; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging; D006801:Humans; D015160:Hydrops Fetalis / Q000000981:diagnostic imaging; D052177:Kidney Diseases, Cystic / Q000000981:diagnostic imaging; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013909:Thorax / Q000000981:diagnostic imaging / Q000196:embryology; D014314:Trisomy; D016216:Ultrasonography, Prenatal