Interphase cytogenetics on paraffin-embedded sections of ovary for detection of genomic constitution in a patient with Turner's syndrome and chromosomal mosaicism

摘要: The difficulty of detecting sex chromosome mosaicism cytogenetically hinders the finding an acceptable explanation for phenotypic-genotypic discrepancy amongst those patients. Fluorescence in situ hybridization (FISH) permits genomic identification patients with mosaic karyotypes interphase nuclei by utilising X chromosome-specific DNA probe (interphase cytogenetics). We evaluated efficiency cytogenetics detection constitution ovary from a patient Turner's syndrome having (46,XX/45,X0) previously established blood lymphocyte karyotyping. used biotin-labelled alphoid repetitive sequence, pBAMX5, specific centromeric region human chromosome. Although examination ovarian sections and lymphocytes FISH showed presence both 46,XX 45,X0 cell lines, germ cells/oocytes primordial follicles was shown to be normal (46,XX). Our results (1) show high applicability on paraffin sections, (2) indicate possibility screening different tissues that are otherwise not amenable routine cytogenetic investigation (3) offer reliable methodological approach defining accurate percentage abnormal organs non-dividing tissues.