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Maternal sex chromosome mosaicism diagnosed by amniocentesis and percutaneous umbilical cord sampling
Author(s) -
Hunter A. G. W.,
D'Alton M.,
Wey B.,
Wang H. S.,
Thompson D. W.
Publication year - 1988
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970080907
Subject(s) - amniocentesis , umbilical cord , obstetrics , fetus , amniotic fluid , prenatal diagnosis , chromosome , pregnancy , y chromosome , medicine , gynecology , genetics , biology , gene
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.