Y chromosome specific probes identify breakpoint in a 45,X/46,X,del(Y)(pter----q11.1:) karyotype of an infertile male.
AUTOR(ES)
Beverstock, G C
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1015601Documentos Relacionados
- 45,X/46,XY/47,XY, +21 mosaicism in a hypogonadal phenotypic male.
- Necropsy findings in a fetus with a 46,XY,dic t(X;21)(p11.1;p11.1).
- Inherited partial X chromosome duplication in a mentally retarded male.
- Three patients with a 45,X/46,X,psu dic(Xp) karyotype.
- Resolution and evolution of the duck-billed platypus karyotype with an X1Y1X2Y2X3Y3X4Y4X5Y5 male sex chromosome constitution
