title: An isodicentric X chromosome with short arm fusion in a woman without somatic features of Turner's syndrome.
abstract: A 25 year old woman with gonadal dysgenesis but no other somatic features of Turner's syndrome was found to have a 45,X/46,XidicX(p22.3) karyotype. It is postulated that because her stature is within the normal range there has been no loss of genetic material in the fusion of the two Xs. Her mother, who also had a history of menstrual problems, was found to be a 46,XX/47,XXX mosaic.
mesh_terms: D000328:Adult; D001827:Body Height; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D005260:Female; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism; D010641:Phenotype; D012728:Sex Chromatin / Q000648:ultrastructure; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome