PMID: 3211856Nov 1, 1988Paper

Maternal sex chromosome mosaicism diagnosed by amniocentesis and percutaneous umbilical cord sampling

Prenatal Diagnosis
A G HunterD W Thompson


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.


Jun 1, 1987·Journal of Medical Genetics·A G HunterM Speevak
Jan 1, 1984·Prenatal Diagnosis·R G Worton, R Stern
Jan 1, 1984·Human Genetics·U ClaussenH J Trampisch
Feb 1, 1983·American Journal of Medical Genetics·P A BennL Y Hsu

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