Y chromosome specific probes identify breakpoint in a 45,X/46,X,del(Y)(pter----q11.1:) karyotype of an infertile male.
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.
Beverstock
G C
GC
Department of Clinical Genetics, University Hospital, Leiden, The Netherlands.
MacFarlane
J D
JD
Veenema
H
H
Hoekman
H
H
Goodfellow
P J
PJ
D002872:Chromosome Deletion; D015342:DNA Probes; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D009030:Mosaicism; D012729:Sex Chromosome Aberrations / Q000235:genetics; D014998:Y Chromosome
D015342:DNA Probes