Cytogenetic and molecular characterization of a small ring chromosome in the complex karyotype of a girl with Turner syndrome.
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.
Guttenbach
M
M
Institut für Humangenetik der Universität, Würzburg, Federal Republic of Germany.
Köhler
J
J
Schmid
M
M
D015139:Blotting, Southern; D002648:Child; D005260:Female; D006801:Humans; D007621:Karyotyping; D009693:Nucleic Acid Hybridization; D012303:Ring Chromosomes; D014424:Turner Syndrome / Q000235:genetics*