Pseudomosaicism in prenatal diagnosis: two simultaneous, independent reciprocal translocations.

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.

Cite this paper

@article{Cohen1981PseudomosaicismIP, title={Pseudomosaicism in prenatal diagnosis: two simultaneous, independent reciprocal translocations.}, author={M. Michael Cohen and Nancy E. Balkin}, journal={American journal of medical genetics}, year={1981}, volume={10 4}, pages={395-8} }