A girl with mosaicism for a dicentric X chromosome (45,X/46,X,dic(X) (Xqter to p22::p22 to qter)).
A 12-year-old girl was examined for growth retardation and a few very discrete dysmorphologic stigmata of Turner's syndrome; the genitalia were infantile yet both ovaries possessed functioning follicles. R- and C-banding techniques and Brdu treatment demonstrated a 45,X formula in 95% of lymphocytes, with 5% presenting a 46,X,dic(X) formula. Cytogenetic and clinical problems raised by this observation are discussed in relation to data from the literature.
D002648:Child; D002904:Chromosomes, Human, 21-22 and Y; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D008214:Lymphocytes; D009030:Mosaicism; D012730:Sex Chromosomes; D014960:X Chromosome