Characterization of a (Y;4) translocation by DNA hybridization |
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Authors: | M. Andersson D. C. Page L. G. Brown K. Elfving A. de la Chapelle |
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Affiliation: | (1) Department of Medical Genetics, University of Helsinki, Haartmaninkatu 3, SF-00290 Helsinki, Finland;(2) Whitehead Institute for Biomedical Research, 02142 Cambridge, MA, USA |
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Abstract: | Summary A phenotypically normal male with azoospermia was found to have a translocation between the short arm of the Y chromosome and the distal long arm of a chromosome 4. By cytogenetic analysis it could not be determined whether the translocation was reciprocal, nor whether it was balanced. In situ DNA hybridization with two pseudoautosomal and one Y-specific probe demonstrated that the breakpoint was on distal Yp and that there was Y chromosome material on 4q. Thus the translocation was reciprocal and could be characterized as t(Y;4)(pll;q32). There was no evidence for loss of Y-DNA sequences as judged by Southern blotting with Y-DNA probes. Thus the translocation may be balanced. We conclude that DNA hybridization can be used to refine considerably the cytogenetic analysis of such translocations. |
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