PT - JOURNAL ARTICLE AU - G C Beverstock AU - J D MacFarlane AU - H Veenema AU - H Hoekman AU - P J Goodfellow TI - Y chromosome specific probes identify breakpoint in a 45,X/46,X,del(Y)(pter----q11.1:) karyotype of an infertile male. AID - 10.1136/jmg.26.5.330 DP - 1989 May 01 TA - Journal of Medical Genetics PG - 330--333 VI - 26 IP - 5 4099 - http://jmg.bmj.com/content/26/5/330.short 4100 - http://jmg.bmj.com/content/26/5/330.full SO - J Med Genet1989 May 01; 26 AB - 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.