@article {Beverstock330, author = {G C Beverstock and J D MacFarlane and H Veenema and H Hoekman and P J Goodfellow}, title = {Y chromosome specific probes identify breakpoint in a 45,X/46,X,del(Y)(pter----q11.1:) karyotype of an infertile male.}, volume = {26}, number = {5}, pages = {330--333}, year = {1989}, doi = {10.1136/jmg.26.5.330}, publisher = {BMJ Publishing Group Ltd}, abstract = {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.}, issn = {0022-2593}, URL = {https://jmg.bmj.com/content/26/5/330}, eprint = {https://jmg.bmj.com/content/26/5/330.full.pdf}, journal = {Journal of Medical Genetics} }