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Deletions in chromosome Y

In cases where there is a deletion of part of the short arm of chromosome Y, a female phenotype is found because of the deletion of a gene called SRY that is responsible for testicular development. This condition is rare. Deletions in the long arm of chromosome Y that do not cause a loss of the normal male phenotype but that may be associated with the absence of sperm formation are more common. In most of these cases the deletion is in a region that does not encode genes and thus has no clinical significance.

If a short Y chromosome is identified, the father should be examined. When the father's Y chromosome is identical to that found in the fetus, the deletion has no significance, but when the father does not have an identical Y chromosome structure, and paternity is not in doubt, the deletion in the fetus may have consequences for the offspring's final height and sterility (because of a lack of sperm cells), although these conditions can be treated.

Some men who are sterile have deletions in certain regions of the long arm of the Y chromosome. These can be detected using molecular methods.
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