Duplication 8q24.2----qter and 15q14----pter resulting from a 3:1 meiotic segregation of a maternal reciprocal translocation

Am J Med Genet. 1988 Dec;31(4):981-5. doi: 10.1002/ajmg.1320310433.

Abstract

We report on a 16-year-old female with duplication 8q24.2----qter and 15q14----pter resulting from a 3:1 segregation of a maternal balanced reciprocal translocation. This mode of unbalanced segregation could be predicted from Pachytene-diagram drawing. Most of her clinical manifestations can be related to the proximal 15q trisomy. To our knowledge there is only one previous report of a similar chromosome constitution.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Chromosomes, Human, Pair 15*
  • Chromosomes, Human, Pair 8*
  • Female
  • Genetic Markers
  • Humans
  • Nondisjunction, Genetic*
  • Translocation, Genetic
  • Trisomy*

Substances

  • Genetic Markers