Biomedical subjects
Publications and source records attributed to J Fraisse.
In the first part, the authors review the different methods used in gene mapping studies. In the second part, human chromosomes map is studied in details. The scientific usefulness of the map is summed up and the first applications in the field of genetic counselling are mentioned. Finally the forthcoming therapeutic applications are being planned at the time.
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A ring chromosome derived from a No. 4 chromosome was found in the complement of an 8-year-old boy with mental retardation and growth retardation and developmental defects characteristic of 4p deletion. Break points were at 4p15 and 4q35.
Two sisters with multiple congenital malformations were shown to be trisomic for 10q24 to 10qter as a consequence of malsegregation of the balanced paternal translocation t(9;10) (q34;q24). Comparison of their phenotype with that of other patients reported in the literature confirms the individuality of the partial 10q trisomy syndrome.
A translocation which originated by telomeric "fusion" of X short arms, t(X;X), was found in a woman with primary amenorrhea and a phenotype corresponding partially to Turner's syndrome. Staining with acridine orange after BrdU incorporation showed the distal segments of both Xp's to be much more modified by the treatment than equivalent segments of normal late replicating X's. This could mean important inactivation of segments usually active even in late replicating X's. This functional monosomy for X would have a clinical effect similar to a true monosomy.
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In its extraovarian form, co-existence of carcinoma and endometriosis is a sufficient argument used in favour of the malignant transformation of endometric lesions. Estrogen as well as the loss of 5q chromosome heterozygosity are considerate as initiators of that type of carcinogenesis. Endometrioid histological type is the most frequent and is revealed usually by abdominal pain. The incidence of carcinoma arising in endometriosis is about 0.8% and 5-year survival rate of pelvic endometrioid form is about a 100% after surgery and radiotherapy.
Discovery of 49 XXXXY syndrome in a six years young boy allows description of the main clinical characteristics of this disease: hypotrophy, facial anomalies, hypogenitalism, delayed speech development and oligophrenia. Radio-cubital synostosis is quite specific in this syndrome. The hypothesis of a correlation between clinical anomalies and excess of genes induced by polysomia has been suggested. We give results of five X-linked enzymatic activities: steroid sulfatase (STS) (located on the probably noninactivated segment), Hypoxanthine Guanine Phosphoribosyl Transferase (HGPRT), Glucose 6 Phosphate Déshydrogenase (G6PD), Phospho Glycerate Kinase (PGK), Alpha Galactosidase A (Alpha GAL A). Only STS activity seems to be significatively increased.
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