Maternal origin of a de novo balanced t(21q21q) identified by ets-2 polymorphism

Hum Genet. 1987 Aug;76(4):396-8. doi: 10.1007/BF00272452.


Molecular investigations were done in a woman with a de novo balanced t(21q21q) discovered because of the birth of a trisomic 21 baby. Polymorphisms detected with probe ets-2 after Msp I digestion showed that both chromosomes 21 involved in the rearrangement were of maternal origin. The most likely hypothesis is that of a disomic 21 oocyte fertilized by a nullisomic 21 sperm.

Publication types

  • Case Reports

MeSH terms

  • Chromosomes, Human, Pair 21*
  • DNA / genetics
  • Down Syndrome / genetics*
  • Genetic Markers
  • Humans
  • Infant, Newborn
  • Male
  • Polymorphism, Genetic*
  • Polymorphism, Restriction Fragment Length*
  • Translocation, Genetic*


  • Genetic Markers
  • DNA