Multiple cytogenetic methods used to identify a new structural rearrangement of the human X chromosome.
A woman with primary amenorrhea and pure gonadal dysgenesis had two cytogenetically abnormal cell lines. The karyotype was 45,X in 56--95% of mitosis from lymphocytes and skin fibroblasts. In the remaining 5--44% of the cells there was, in addition to a normal X, a structurally abnormal X chromosome interpretable as pter leads to q21::q11 leads to pter or pter leads to q21::q13 leads to pter. The abnormal X chromosome was heterocyclic and had a normal centromere plus an extra C band in the long arm. Detailed interpretation of the structural rearrangements of this chromosome required the use of both Q-, G-, and C-banding and the BrdU-Hoechst 33258 technique.
D000328:Adult; D000568:Amenorrhea / Q000097:blood / Q000235:genetics; D001789:Blood Group Antigens; D002460:Cell Line; D005260:Female; D005347:Fibroblasts / Q000648:ultrastructure; D005821:Genetic Techniques; D006801:Humans; D008214:Lymphocytes / Q000648:ultrastructure; D008938:Mitosis; D012729:Sex Chromosome Aberrations; D012730:Sex Chromosomes / Q000648:ultrastructure*; D014424:Turner Syndrome / Q000097:blood / Q000235:genetics*; D014960:X Chromosome / Q000648:ultrastructure*
D001789:Blood Group Antigens