Cytogenetic and molecular analysis of a Yq isochromosome.
The dicentric Yq isochromosome of a male with azoospermia and some features of Klinefelter's syndrome was examined using cytogenetic and molecular methods. C- and R-banding of chromosomes of peripheral blood lymphocytes revealed a complex mosaic consisting of 46,X,i(Yq)/45,XO/46,XY/47,XYY/47,XY, i(Yq)/47,X,i(Yq),i(Yq) cells. EBV-transformed lymphocytes either had a 46,X,i(Yq) (90%) or a 46,X, + mar (10%) karyotype. The marker chromosome was shown to be Y-derived by in situ hybridization. C-banding, quinacrine- and DA/DAPI-staining indicated inactivation of one of the centromeres in almost all Yq isochromosomes. The use of Y chromosomal DNA sequences demonstrated that most of the Y chromosome, including its short arm, was duplicated.
Guttenbach
M
M
Institut für Humangenetik der Universität, Würzburg, Federal Republic of Germany.
Müller
U
U
Schmid
M
M
D000328:Adult; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D015342:DNA Probes; D006801:Humans; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000235:genetics*; D008297:Male; D009693:Nucleic Acid Hybridization; D009845:Oligospermia / Q000235:genetics*; D014998:Y Chromosome
D015342:DNA Probes