title: Structural aberration of the X chromosome in a patient with gonadal dysgenesis: an approach to karyotype-phenotype correlation.
abstract: An 18-year-old female with some stigmata of pure dysgenesis had a chromosome constitution of 46,X,dir dup(X) (pter leads to q27: :q21 leads to qter). The abnormal chromosome was always late replicating. The clinical and cytogenetic picture is compared with that of patients with X;X translocation and some problems of karyotype-phenotype correlation are discussed.
mesh_terms: D000293:Adolescent; D001973:Bromodeoxyuridine / Q000378:metabolism; D002871:Chromosome Banding; D005260:Female; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D010641:Phenotype; D012729:Sex Chromosome Aberrations; D012730:Sex Chromosomes / Q000648:ultrastructure*; D014960:X Chromosome / Q000378:metabolism / Q000648:ultrastructure*
chemical_list: D001973:Bromodeoxyuridine