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A sterile male with 45,X0 and a Y;22 translocation

✍ Scribed by Joachim Arnemann; Susanne Schnittger; Georg K. Hinkel; Erika Tolkendorf; Jörg Schmidtke; Ingo Hansmann

Publisher
Springer
Year
1991
Tongue
English
Weight
826 KB
Volume
87
Category
Article
ISSN
0340-6717

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✦ Synopsis

Cytogenetic analysis of a 20-year-old sterile male revealed a 45,X0 karyotype with no evidence for Y-chromosomal material on any of the chromosomes analysed by Q-, G-and C-banding. DNA analysis with 17 different Y chromosome-derived probes revealed the presence of Yp DNA sequences in the patient's genome. In situ hybridization with the Yp-derived probe pJA36B disclosed a translocation of Y-chromosomal material onto the short arm of a chromosome 22. location of Y-chromosomal sequences, including TDF, to an autosome can be found, generating males with a 45,X0 karyotype. The mechanisms leading to these Y;autosome translocations are still unresolved. Most of the XX-or X0-males are ascertained through sterility, abnormal or delayed sexual development or reduced body size. In the present study, we report the case of an azoospermic 20-year-old 45,X0 male in which Yp-sequences were translocated to the short arm of a chromosome 22.

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