Recurrent trisomy 15 in a female carrier of der(15)t(Y;15)(q12;p13)

Am J Med Genet. 2001 Apr 1;99(4):320-4. doi: 10.1002/1096-8628(2001)9999:9999<::aid-ajmg1173>3.0.co;2-1.

Abstract

We report on a female carrier of der(15) t(Y;15)(q12;p13) who had two pregnancy losses with trisomy 15 and one with tetraploidy. Molecular analysis showed that both non-disjunction events resulting in the trisomy 15 pregnancies occurred in maternal meiosis I. This finding raises the possibility that there may be an increased risk for trisomy 15 in some carriers of unbalanced t(Y;15) which, if followed by trisomic zygote rescue, may lead to uniparental disomy (UPD).

Publication types

  • Case Reports

MeSH terms

  • Abortion, Habitual / etiology
  • Abortion, Habitual / genetics*
  • Adult
  • Chromosomes, Human, Pair 15 / genetics*
  • Cytogenetic Analysis
  • Female
  • Genetic Markers
  • Heterozygote
  • Humans
  • In Situ Hybridization, Fluorescence
  • Polyploidy*
  • Pregnancy
  • Translocation, Genetic*
  • Trisomy
  • Y Chromosome

Substances

  • Genetic Markers