Prenatal findings in trisomy 16q of paternal origin

A 34-year-old pregnant woman was referred at 30 weeks of gestation with sus pected fetal congenital heart disease. On prenatal ultrasound the following anomalies were detected: intra-uterine growth retardation, micrognathia, c oarctation of the aorta with ventricular and atrial septal defects, ambiguo us external genitalia,. and clinodactyly of one hand with adducted thumb. P renatal karyotyping was offered but refused by the patient. The fetus was d elivered by Caesarean section due to fetal distress at 36 weeks of gestatio n. The neonate, weighing 2150 g was transferred to the neonatal intensive c are unit, where he died 10 days later. The karyotype from peripheral blood lymphocytes was 46,XY + der(20)t(16;20)(q12.1;p13)pat. The maternal karyoty pe was unremarkable, whereas the father had the translocation t(16;20)(q12. 1;p13). Necropsy confirmed all the prenatal findings. These are discussed t ogether with the implications of the chromosomal diagnosis and the pertinen t literature is reviewed. Copyright (C) 1999 John Wiley & Sons, Ltd.