Pseudomosaicism in prenatal diagnosis: two simultaneous, independent reciprocal translocations.
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.
D000328:Adult; D002877:Chromosomes, Human / Q000648:ultrastructure; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D009030:Mosaicism; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic