Turner's syndrome with a duplication-deficiency X chromosome derived from a maternal pericentric inversion X chromosome.
A 31-year-old woman of short stature with severe oligomenorrhea was found to carry a duplication-deficiency X chromosome, 46,X,rec(X)dup q,inv(X)(p22q11), inherited from her mother who carried a pericentric inversion X chromosome, 46,X,inv(X)(p22q11). By a combination of autoradiography and BUdR incorporation, the duplication-deficiency X chromosome was always found to be the inactive and late replicating one. In the cultured fibroblasts with the recombinant X chromosome, some of the cells were seen to have bipartite X chromatin bodies. In the mother with inv(X), the normal and the inverted X chromosome were inactivated at random.
D000328:Adult; D002871:Chromosome Banding; D007446:Chromosome Inversion; D005260:Female; D006801:Humans; D010375:Pedigree; D012730:Sex Chromosomes; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome