Trisomy 1 in a case of a missed abortion

J Hum Genet. 2004;49(7):396-397. doi: 10.1007/s10038-004-0164-1. Epub 2004 Jun 8.

Abstract

Most chromosomal trisomies lead to miscarriages. In all trisomies, trisomy 1 is the most rare case. We herein present a patient who demonstrated a gestational sac and a yolk sac on transvaginal ultrasound. However, at 53 days of gestation, the pregnancy was lost with a diagnosis of a blighted ovum. A D&C was recommended and performed. A cytogenetic analysis from chorionic villi demonstrated a 47,XX,+1 chromosome complement in all 100 cells. Regarding full trisomy 1, there has only been one case report of a preembryo and two case reports in a clinically recognized pregnancy to date.

Publication types

  • Case Reports

MeSH terms

  • Abortion, Missed / genetics*
  • Chromosome Aberrations
  • Chromosome Banding
  • Chromosomes, Human, Pair 1*
  • Female
  • Humans
  • Pregnancy
  • Pregnancy Trimester, First
  • Trisomy*