Y chromosome specific probes identify breakpoint in a 45,X/46,X,del(Y)(pter----q11.1:) karyotype of an infertile male

G C Beverstock; J D MacFarlane; H Veenema; H Hoekman; P J Goodfellow

doi:10.1136/jmg.26.5.330

Y chromosome specific probes identify breakpoint in a 45,X/46,X,del(Y)(pter----q11.1:) karyotype of an infertile male

J Med Genet. 1989 May;26(5):330-3. doi: 10.1136/jmg.26.5.330.

Authors

G C Beverstock¹, J D MacFarlane, H Veenema, H Hoekman, P J Goodfellow

Affiliation

¹ Department of Clinical Genetics, University Hospital, Leiden, The Netherlands.

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.

Publication types

Case Reports
Review

MeSH terms

Chromosome Deletion*
DNA Probes*
Humans
Infertility, Male / genetics*
Karyotyping
Male
Middle Aged
Mosaicism
Sex Chromosome Aberrations / genetics
Y Chromosome*

Substances

DNA Probes