Joelle Boué

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Tyrosinemia typeII (Richner-Hanhart syndrome, RHS) is a disorder of autosomal recessive inheritance characterized by keratitis, palmoplantar hyperkeratosis, mental retardation, and elevated blood tyrosine levels. The disease results from deficiency in hepatic tyrosine aminotransferase (TAT). We have previously described one deletion and six different point(More)
We have analysed the segregation of a TA-repeat polymorphism in intron 17b of the cystic fibrosis transmembrane conductance regulator gene responsible for cystic fibrosis (CF) in 23 French CF families non-informative for the ΔF508 mutation (i.e. with at least one parent not carrying ΔF508) or closely linked DNA markers. At least 13 different alleles ranging(More)
The karyotypes of two consecutive abortuses were established in 43 women. There is a correlation between the normal or abnormal character of the two specimens, but when the karyotypes of both specimens are abnormal there is no correlation between the two karyotypes. The obstetric history of these women shows that they belong to a high-risk group but that(More)
The phenotypically normal sister of a patient affected by fragile X syndrome was referred for genetic counselling and was found to carry a mosaic karyotype 46,X,r(X)/45,X. Because the probability of the simultaneous chance occurrence of fragile X syndrome and a ring chromosome X in the same family is very low, we postulated that the breakpoint of the ring(More)
Antenatal diagnosis enables certain fetal abnormalities to be detected "in utero", and in particular mongolism. This examination is often undertaken in the process of medical attention in pregnancy. This explains why interviews with pregnant women about this far from ordinary act have become so superficial. Men and women react differently to this take-over.(More)
This article, which is the second installment of a study of the psychological aspects of antenatal diagnosis, presents the analysis of interviews with women (and with some of their partners) who were examined because of their age. The characteristics of these "late" pregnancies seem to be the following: 1. The question of a abnormality shifts the emphasis(More)
In diagnosing and preventing the birth of abnormal children the authors stress the necessity of team work of different specialists and their centralisation at the University complex or hospitals. The results of such a team work organised at the Division of Medical Genetics, Department of Gynecology and Obstetrics in Ljubljana and their experience in(More)
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