Abstract
A 25-year-old woman with gonadal dysgenesis, as manifested by estrogen deficiency, elevated urinary gonadotropins, primary amenorrhea, absence of ovarian masses by pelvic pneumography, and characteristic somatic features of Turner's syndrome, showed no demonstrable chromosome abnormality upon karyotypic analysis of cultured blood cells and skin fibroblasts. Buccal smears showed normal-sized Barr bodies and a normal sex chromatin index. Chromosome autoradiography disclosed allocyclic condensation of the late-replicating X chromosome during stages of metaphase. Although the cytologic and cytogenetic data do not exclude submicroscopic deletion or undetected translocation of the X chromosome, the possibility of intrachromosomal changes resulting in a genetically deficient X chromosome and Turner's syndrome is suggested as a probable etiologic mechanism.
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