Fertility and X-chromosome rearrangements: isodicentric X-chromosome formation in the mother and Xp deletion in her daughter

Clin Genet. 1988 Nov;34(5):321-4. doi: 10.1111/j.1399-0004.1988.tb02885.x.

Abstract

In the present paper we report the first example of fertility in a female with isodicentric X-formation and karyotype 45,X/46,X,del(X)(pter----p21.3)/46,X,idic(X)(qter----p21.3::p21.3- ---qter). Her daughter was phenotypically almost normal and presented a 46,X,del(X)(pter----p21.3) karyotype in all examined cells.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosome Deletion*
  • Chromosomes* / ultrastructure*
  • Female
  • Humans
  • Infant
  • Infertility, Female / genetics*
  • Karyotyping
  • Sex Chromosome Aberrations / genetics
  • Translocation, Genetic*