title: Maternal sex chromosome mosaicism diagnosed by amniocentesis and percutaneous umbilical cord sampling.
abstract: We present a remarkable chain of events in which percutaneous umbilical cord sampling was performed in an attempt to clarify a situation of possible fetal sex chromosome mosaicism in an amniotic fluid culture and led to the discovery that the mother herself had a 45,X/46,XX/47,XXX chromosome constitution. This may have simply represented the chance concurrence of pseudo-mosaicism in the amniotic fluid culture of a woman with an abnormal sex chromosome constitution, but it is also possible that the 45,X colony was maternal in origin. Although clearly a most unusual circumstance, the possibility should be kept in mind when termination of a pregnancy is being considered because of apparent mosaicism in a prenatal diagnostic study.
authors.affiliation: Division of Genetics, Children's Hospital of Eastern Ontario, Canada.
authors.forename: A G
authors.initials: AG
authors.lastname: Hunter
authors.forename: M
authors.initials: M
authors.lastname: D'Alton
authors.forename: B
authors.initials: B
authors.lastname: Ivey
authors.forename: H S
authors.initials: HS
authors.lastname: Wang
authors.forename: D W
authors.initials: DW
authors.lastname: Thompson
mesh_terms: D000328:Adult; D000649:Amniocentesis; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008423:Maternal Age; D009030:Mosaicism; D011247:Pregnancy; D011248:Pregnancy Complications / Q000175:diagnosis*; D018566:Pregnancy, High-Risk; D012729:Sex Chromosome Aberrations / Q000175:diagnosis*; D014470:Umbilical Cord / Q000648:ultrastructure*