TY - JOUR T1 - Y chromosome specific probes identify breakpoint in a 45,X/46,X,del(Y)(pter----q11.1:) karyotype of an infertile male. JF - Journal of Medical Genetics JO - J Med Genet SP - 330 LP - 333 DO - 10.1136/jmg.26.5.330 VL - 26 IS - 5 AU - G C Beverstock AU - J D MacFarlane AU - H Veenema AU - H Hoekman AU - P J Goodfellow Y1 - 1989/05/01 UR - http://jmg.bmj.com/content/26/5/330.abstract N2 - 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. ER -