Trisomy 2: confined placental mosaicism in a fetus with intrauterine growth retardation

Prenat Diagn. 1997 Feb;17(2):180-3. doi: 10.1002/(sici)1097-0223(199702)17:2<180::aid-pd31>3.0.co;2-#.

Abstract

In a pregnancy that was monitored due to increased risk for Down syndrome in the triple test, a normal karyotype was found in amniocentesis. Follow-up by serial ultrasound examinations revealed intrauterine growth retardation (IUGR) at 20 weeks of gestation. The parents decided to terminate the pregnancy and the karyotype of the placental fibroblasts was 47,XX,+2. Analysis of polymorphic markers of chromosome 2 demonstrated (a) that trisomy 2 was confined to the placenta (CPM), (b) that the trisomy 2 cell line was a result of a meiotic I error of paternal origin, and (c) that the fetal tissues with a normal karyotype were biparental disomy 2.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amniocentesis
  • Chorionic Gonadotropin, beta Subunit, Human / blood
  • Chromosomes, Human, Pair 2*
  • Estriol / blood
  • Female
  • Fetal Growth Retardation / genetics*
  • Humans
  • Mosaicism*
  • Placenta*
  • Polymorphism, Genetic
  • Pregnancy
  • Prenatal Diagnosis*
  • Trisomy*
  • Ultrasonography, Prenatal
  • alpha-Fetoproteins / analysis

Substances

  • Chorionic Gonadotropin, beta Subunit, Human
  • alpha-Fetoproteins
  • Estriol