Familial Turner syndrome.
Seven women in three generations of a family have been affected by Turner syndrome. Turner phenotype in this family is the result of deletion of the entire short arm of one X chromosome. The short arm deletion is transmitted by carriers of a balanced X-1 translocation. Autoradiographic findings showed that the deleted X chromosome was late labeling in those persons with Turner syndrome, whereas the normal X chromosome was late replicating in carriers of the balanced translocation. The results of Xga typing of erythrocytes suggest that the Xg locus is on the short arm of the X chromosome. Because of the clinical implications, we believe that families of persons with structural chromosomal abnormalities should be studied to exclude familial transmission.
D000293:Adolescent; D000328:Adult; D001789:Blood Group Antigens; D002648:Child; D004912:Erythrocytes / Q000276:immunology; D005260:Female; D006801:Humans; D014178:Translocation, Genetic; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome
D001789:Blood Group Antigens