[Efficacy and safety of chorionic villi sampling: some preliminary results of a Lausanne group (January-June 1986)].
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Biomedical subjects
Publications and source records attributed to G Pescia.
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Report of a family with dominant hereditary multicentric osteolysis. The review of the literature proves the clinical and genetic heterogeneity of the disease.
Linkage between the loci for fraXq of Martin-Bell syndrome and factor IX was studied in nine families exhibiting this syndrome by means of a restriction fragment length polymorphism at the factor IX locus. Computer analysis of the data indicates there to be no evidence for close linkage between the syndrome and the factor IX locus.
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The case histories of three patients with hematologic disorders are reviewed. The patients are members of the same family composed of three brothers and two sisters. Two have osteomyelofibrosis and one essential thrombocythemia. Hematologic, enzymatic, cytogenetic, immunocytologic and immunogenetic investigations allow the following conclusions: - all the 5 siblings have identical blood group and rhesus factor (0+); - there is an HLA identity in the 5 siblings characterized by the alleles: A2, A3, B5, B7 (w4, w6); - the white blood cell alkaline phosphatase is not increased; - no monoclonality can be shown; - the chromosome Ph 1 is absent. In the second (osteomyelofibrosis) and third (essential thrombocythemia) patient an additional chromosome has been found, while the caryotype of the other three siblings, including the first patient with osteomyelofibrosis, is normal.
The main indications of IVF-ET, i.e. tubal sterility, idiopathic infertility and male infertility are critically discussed. Tubal sterility is in our opinion the only clear clinical indication. The IVF-ET application in cases of idiopathic infertility can be considered as an empirical therapeutic approach. According to our own results and those of other authors, male infertility is the most questionable indication to IVF-ET.
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We report three cases of Turner syndrome 45,X/46,XX with spontaneous menstruations. Two patients had together four pregnancies with a normal girl, a malformed boy and two miscarriages. The outcome of the pregnancy in such a women is discussed with a review of the literature.
We report our results of a retrospective study of vesico-ureteral reflux based on the families of 66 index patients. The recurrence risk for sibs is 9,3%. With a prospective approach (ultrasound and uroradiology), the proportion of affected sibs is 26,6%. Our results are discussed with reference to the data of the literature.
True microcephaly can be diagnosed at an early stage of gestation by serial measurements of fetal head growth as demonstrated by this case report in which the diagnosis of genetic microcephaly was made but termination refused. True microcephaly was evident at birth.
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