[Four new cases of X-autosome translocation in man (author's transl)].
Four new cases of translocations involving the X chromosome are reported. The first is a balanced t(1;X) observed in an abnormal girl. In most of the cells, the normal X is inactivated. The second case is a woman with oligomenorrhea, who has had two spontaneous abortions. She carries an umbalanced t(X-autosome). In all cells, the abnormal X, including the autosomal segment, is inactivated. The third and fourth cases are a mother, and her son. The mother has oligomenorrhea, carries a t(X,X), and has a karyotype of 46,X,+der t(X;X) and that of her son is 47,XY,+der t(X;X) and shows behavioral abnormalities. The abnormal X chromosome is inactivated in all the cells analyzed.
D000166:Acridines; D000328:Adult; D001973:Bromodeoxyuridine / Q000494:pharmacology; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002900:Chromosomes, Human, 1-3; D005260:Female; D006801:Humans; D008297:Male; D008856:Microscopy, Fluorescence; D012730:Sex Chromosomes; D013194:Staining and Labeling; D014178:Translocation, Genetic
D000166:Acridines; D001973:Bromodeoxyuridine
Sur quatre nouveax cas de translocation du chromosome X chez l'homme