Short arm deletion of an X chromosome, 46,XXp-.
A 27-year-old patient of short stature with primary amenorrhea and other slight Turner signs showed a 46,XX,del(X) (qter leads to p11:) karyotype, identified by a combination of fluorescence and giemsa-banding technique. By BUdR incorporation the deleted X chromosome was shown to be the late replicating one.
D000328:Adult; D001827:Body Height; D002872:Chromosome Deletion; D005260:Female; D006801:Humans; D010375:Pedigree; D010641:Phenotype; D012728:Sex Chromatin / Q000032:analysis; D012729:Sex Chromosome Aberrations; D012730:Sex Chromosomes; D014424:Turner Syndrome / Q000235:genetics