Dicentric X-isochromosome (Xqi dic) and pericentric inversion of No. 2 [inv(2) (p15 q21)] in a patient with gonadal dysgenesis.
A patient with the clinical stigmata of gonadal dysgenesis is presented. Cytogenetic investigations revealed two distinct structural chromosome rearrangements. One of these, an isochromosome for the long arm of the X, proved to be a dicentric element following C-banding. The second abnormality, an inherited familial marker, was a pericentric inversion of No. 2 [(inv 2) (p15q21)].
D000293:Adolescent; D000328:Adult; D002869:Chromosome Aberrations; D007446:Chromosome Inversion; D002900:Chromosomes, Human, 1-3; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D012728:Sex Chromatin; D012730:Sex Chromosomes; D014424:Turner Syndrome / Q000235:genetics*