Cytogenetic analysis of products of conception has identified trisomie
s for all human chromosomes except for chromosome 1. Presented here is
a patient with clinical signs of pregnancy, including increasing hCG
levels and evidence of a gestational sac on ultrasound. However, the p
regnancy was lost between 8-9 weeks post-LMP with the diagnosis of a b
lighted ovum. Cytogenetic analysis of cultured chorionic villi demonst
rated a 47,XY,+1 chromosome complement in all cells. This is the first
reported case of nonmosaic trisomy 1 in a clinically recognized human
pregnancy.