Pseudomosaicism in prenatal diagnosis: two simultaneous, independent reciprocal translocations

Am J Med Genet. 1981;10(4):395-8. doi: 10.1002/ajmg.1320100412.

Abstract

Cytogenetic evaluation of cultured amniotic fluid cells showed mosaicism of three karyotypes: 46,XY; 46,XY [t(13;17)(q13;q25]; and 46, XY [t(11;12)(p11;q13)]. Reanalysis of cells from the four original culture flasks harvested individually revealed that both translocations derived from the same flask. Repeat amniocentesis, as well as peripheral blood obtained postnatally from a phenotypically normal male infant, demonstrated only normal chromosomes (46,XY). This observation represents a case of pseudomosaicism containing two different reciprocal translocations.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosomes, Human / ultrastructure
  • Diagnosis, Differential
  • Female
  • Humans
  • Mosaicism*
  • Pregnancy
  • Prenatal Diagnosis*
  • Translocation, Genetic*