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  • Title: Maternal sex chromosome mosaicism diagnosed by amniocentesis and percutaneous umbilical cord sampling.
    Author: Hunter AG, D'Alton M, Ivey B, Wang HS, Thompson DW.
    Journal: Prenat Diagn; 1988 Nov; 8(9):673-5. PubMed ID: 3211856.
    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.
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