Publications by authors named "A Combet"

The authors report two new cases of primary amenorrhoea due to the presence of a dicentric Y with a chromosome formula of 45,X/46,X,dic(Y). These two patients show how variable the clinical manifestations of these gonosome anomalies can be, since one had a Turner's syndrome and the other is a woman who looks completely normal but only has primary amenorrhoea. A review of the literature has brought to light only 45 cases similar to ours and shows the different clinical aspects of these patients who are 45,X/46,Xdic(Y).

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From an observation, authors underline the interest of two complementary tests: ultrasonography and amniotic fluid AFP determination. About the reported case, the chronology of facts is unusual: ultrasonography led initially to suspect anomaly, then elevated AFP result confirmed the malformation.

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We report 2 cases of malformations occuring in the region of the umbilicus which were diagnosed by amniocenteses before the 20th week of pregnancy (with levels of alphafetoprotein) and echography. Failure of development of the abdominal wall was only diagnosed for certain after the therapeutic abortion had been carried out. The omphalocoele was diagnosed for certain by echography at the 19th week after anencephaly and spina bifida had been eliminated in spite of an abnormally high rise in the level of amniotic fluid alphafetoprotein (100.

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The level of placental alpha-fetoprotein (AFP) in normal pregnancy at term was found to be 5050 +/- ng/g fresh tissue. A significant increase was noted in the toxemic placenta associated with a rise in circulating maternal AFP level and a nonsignificant increase in cord blood. The increase in maternal AFP level in cases of premature delivery before 33 weeks' gestation and postmature delivery after 40 weeks' gestation predicted that maternal AFP measurement throughout the second and third trimester of pregnancy could be clinically established as an index of placental function.

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