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Hum Genet. 1980 Feb;53(2):275-7.

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.

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