• Medientyp: E-Artikel
  • Titel: Prenatal investigation of a 45,X/46,X,r(?) karyotype in amniocytes using fluorescence in situ hybridization with an X‐centromeric probe
  • Beteiligte: Bajalica, Svetlana; Bui, The‐Hung; Koch, Jørn; Bröndum‐Nielsen, Karen
  • Erschienen: Wiley, 1992
  • Erschienen in: Prenatal Diagnosis
  • Sprache: Englisch
  • DOI: 10.1002/pd.1970120109
  • ISSN: 0197-3851; 1097-0223
  • Schlagwörter: Genetics (clinical) ; Obstetrics and Gynecology
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  • Beschreibung: <jats:title>Abstract</jats:title><jats:p>The karyotype of cultured amniotic fluid cells obtained on the indication of advanced maternal age was shown to be a mosaic 45,X/46,X,r(?). The small size and banding pattern made it difficult to determine whether the ring was derived from and X or a Y chromosome, or even from an autosome. By using an X‐centromeric probe and fluorescence <jats:italic>in situ</jats:italic> hybridization (FISH), we demonstrated the ring to have an X centromere. Thus, a more complete genetic counselling was possible. This confirms the usefulness of FISH in identifying and characterizing this and other chromosome rearrangements in prenatal diagnosis.</jats:p>