An association of prune belly anomaly with trisomy 21.
We report on two patients with prune belly anomaly (PBA) and trisomy 21 documented by clinical examination and cytogenetic investigation. The first infant was diagnosed at birth. A distended bladder was detected prenatally by ultrasound in the second patient, and chromosome studies were performed on cells obtained from fetal "bladdercentesis." We discuss the importance of cytogenetic studies in cases where fatal surgery is a consideration.
D004314:Down Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D005333:Fetus / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011296:Prenatal Diagnosis; D011535:Prune Belly Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D014556:Urine / Q000166:cytology