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Characterization of a (Y;4) translocation by DNA hybridization

✍ Scribed by M. Andersson; D. C. Page; L. G. Brown; K. Elfving; A. Chapelle

Publisher: Springer
Year: 1988
Tongue: English
Weight: 383 KB
Volume: 78
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00291741

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✦ Synopsis

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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