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A case of 46,XX,r(X) (p1q1) diagnosed by in situ hybridization
Authors:J. Koch,,S. Kø  lvraa,,N. Hobolt,,G. B. Petersen,,H. F. Willard,,J. S. Waye,,N. Gregersen, L. Bolund
Affiliation:Institute of Human Genetics, University of Aarhus, Denmark.
Abstract:A small marker chromosome was identified as an X-derived ring chromosome by in situ hybridization with a biotinylated X-chromosome specific a-satellite DNA probe. This procedure clearly determined the chromosomal origin of the marker chromosome, which had been impossible to define by conventional cytogenetic techniques including high resolution banding.
Keywords:biotin labelling    in situ hybridization    marker chromosome
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