Cytogenetic analysis of products of conception has identified trisomies 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 pregnancy was lost between 8-9 weeks post-LMP with the diagnosis of a blighted ovum. Cytogenetic analysis of cultured chorionic villi demonstrated 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. Am. J. Med. Genet. 68:98, 1997
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