An abnormal dicentric X chromosome in a patient with short stature and gonadal dysgenesis.
A 16 year-old girl with short stature and gonadal dysgenesis was found to have a chromosomal complement consisting of 46,X,dic(X) (qter yields p22::p22 yields qter). When comparing her clinical features with 7 other cases who appeared to have precisely the same abnormal dicentric X, it was found that even though the percent of 45,X cells present varied considerably from patient to patient, these patients were remarkably similar and the stigmata, of Turner's syndrome were minimal in this group as a whole.
D000293:Adolescent; D003878:Dermatoglyphics; D005260:Female; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D012729:Sex Chromosome Aberrations / Q000175:diagnosis*; D014424:Turner Syndrome / Q000175:diagnosis; D014960:X Chromosome / Q000648:ultrastructure