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Cytogenetic and molecular analysis of a Yq isochromosome

✍ Scribed by Martina Guttenbach; Ulrich Müller; Michael Schmid

Publisher
Springer
Year
1990
Tongue
English
Weight
835 KB
Volume
86
Category
Article
ISSN
0340-6717

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✦ Synopsis

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, quinacfine-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.

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