Partial short arm deletion of the X chromosome 46,X,del(X)(qter = to p21:).
It is known from the literature that total loss of the short arm causes complete Turner's signs (Hoo, 1975; Therman and Patau, 1974). Partial deletions of the short arm of the X chromosome are in some cases compatible with fertility (Fraccaro et al., 1977; Hoo, 1979), but in other cases they cause a significant ovarial insufficiency with Turner's signs (Giraud et al., 1974) or gonadal dysgenesis (Petrinelli et al, 1978). A common sign for all the patients having the Xp - with the break point in the dark band (p113-p21) seems to be a short stature. The presence of other clinical signs is rather irregular. In this work, a 25-year-old female patient have a Xp deficiency in region p21 (46,X,del(X) (qter = to p21 :)) with short stature, primary amenorrhea, sterility, and clear Turner's is described.
D000328:Adult; D001827:Body Height; D002872:Chromosome Deletion; D005260:Female; D006801:Humans; D007621:Karyotyping; D008214:Lymphocytes / Q000648:ultrastructure; D012730:Sex Chromosomes; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome