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 di agnosed prenatally by ultrasonography and cytogenetic analysis is presented . Detailed evaluation by sonography showed major anomalies which could be c orrelated to the typical appearance of this chromosomal anomaly. Terminatio n of pregnancy at 21 weeks of gestation was performed. and the prenatal dia gnosis 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) (q1 3.1 --> qter). Copyright (C) 2000 John Wiley & Sons, Ltd.