Characterization of a (Y;4) translocation by DNA hybridization.
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.
Andersson
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M
Department of Medical Genetics, University of Helsinki, Finland.
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de la Chapelle
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D000328:Adult; D002894:Chromosomes, Human, Pair 4 / Q000648:ultrastructure*; D006801:Humans; D007248:Infertility, Male / Q000235:genetics; D008297:Male; D009693:Nucleic Acid Hybridization; D012729:Sex Chromosome Aberrations / Q000150:complications / Q000235:genetics*; D014178:Translocation, Genetic; D014998:Y Chromosome / Q000648:ultrastructure*