An infertile male patient with a 45,X peripheral blood karyotype and a 45,X/46,X,del(Y)(pter----q11.1:) mosaic skin fibroblast karyotype is described. Steroid sulphatase (STS) activity was normal. Recombinant DNA studies using Y chromosome specific probes suggest that almost the entire long arm of the Y chromosome is deleted.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1015601 | PMC |
| http://dx.doi.org/10.1136/jmg.26.5.330 | DOI Listing |
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