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.