[Rare chromosome abnormality: tetrasomy X (48XXXX)].
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Biomedical subjects
Publications and source records attributed to F Bajolle.
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A girl with partial trisomy for the short arm of chromosome 11 resulting from an unbalanced translocation 46,XX,der 5, t(5,11) (p 15,p14) pat is described. The clinical findings are compared with those of other patients with partial trisomy 11p. The translocation in the balanced form was present in the fater, the brother, and the grandmother of the proposita.
Using a recent technic according to the principes of counter-immuno-electrophoresis, the authors corroborate the fact biochemical tests for streptococci are deficient. The work is practised in 332 samples from hospital.
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During February 1979 to December 1982 we studied the karyotype of 706 psychiatric adult patients without making a clinical selection. We found a chromosomial mosaïc aberration in 37 cases, concerning one leukocyte mitosis for ten studied cells : so a proportion of 5.2% cases. There do not exist statistics concerning the general population's mosaïc aberrations but in the same population the proportion of the homogeneous aberrations is near 0.5%, so 10 times lower than the proportion that we observed. The largest number of aberrations found concern the gonosomes, essentially some monosomics 45,XO or some trisomics 47,3X, among women who present a maniac depressive psychosis or another type of depression.
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A standard karyotype was normal in 1968, when performed in a girl with multiple malformations. The same investigation was performed 7 years later with labelling techniques. It showed a partial duplication of the short arm of chromosome no. 11. This emphasizes the interest of a second karyotype in clinically suggestive cases, if the first has been performed before labelling techniques were used.