title: Cytogenetic and clinical studies in gonadal dysgenesis with 46,X,Xt(qter leads to p221::p223 leads to qter) karyotype: review and phenotype/karyotype correlations.
abstract: Chromosome analysis by Q, R, and C banding was performed in a case diagnosed clinically as gonadal dysgenesis and the karyotype was shown to be 46,X,Xt(qter leads to p221::p223 leads to qter). Localisation of the breakpoints in the fused X chromosomes and replication studies have led to a hypothesis on the origin of the translocation. A comparison of clinical and cytogenetical findings in this and other published cases has also been made in an attempt to detect some phenotype/karyotype correlations.
mesh_terms: D000328:Adult; D002871:Chromosome Banding; D005260:Female; D006059:Gonadal Dysgenesis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007621:Karyotyping; D010641:Phenotype; D012729:Sex Chromosome Aberrations / Q000235:genetics; D012730:Sex Chromosomes / Q000648:ultrastructure*; D014178:Translocation, Genetic; D014960:X Chromosome / Q000648:ultrastructure*