Non-mosaic isodicentric X-chromosome in a patient with secondary amenorrhea.
An isodicentric X-chromosome idic(X) (pter----q26.1::q26.1----pter) was found in lymphocytes and ovarian tissue of a 40-year-old female patient with secondary amenorrhea. No mosaicism was observed. The phenotype-karyotype correlation of our case and of previously described non-mosaic cases of idic(X) (q::q) with different breakpoints is discussed.
D000328:Adult; D000568:Amenorrhea / Q000209:etiology* / Q000473:pathology; D005260:Female; D006059:Gonadal Dysgenesis / Q000150:complications / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008214:Lymphocytes / Q000648:ultrastructure; D010053:Ovary / Q000648:ultrastructure; D012729:Sex Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D014960:X Chromosome / Q000648:ultrastructure*