Cytogenetic and molecular characterization of a small ring chromosome in the complex karyotype of a girl with Turner syndrome

Summary Blood samples of an 8-year-old girl with Turner syndrome were examined using cytogenetic and molecular methods. Chromosomal analyses revealed a mosaic karyotype consisting of 25% 47,X,der(X),+r(X) and 75% 46,X,der(X) cells. Southern blot hybridizations with Y-specific DNA probes excluded a Y chromosomal origin of the small ring chromosome. In situ hybridization using DNA probe pXBR showed it to be X-derived. Examination of C-, Q-, and R-banding patterns indicated that the der(X) chromosome probably arose by a translocation event.