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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 

Molecular and cytogenetic characterization of two azoospermic patients with X-autosome translocation.

PURPOSE: To report two azoospermic patients with reciprocal X-autosome translocations. METHODS: Cytogenetic analysis utilizing GTG-banding and Yq microdeletions shown by polymerase chain reaction (PCR) with 12 sequence-tagged site (STS) markers for Y chromosome microdeletions. RESULTS: Cytogenetic analysis showed one man with 46,Y,t(X;19)(q22;q13.3) and the other with 46,Y,t(X;8)(p22;q11). Neither had any Yq microdeletions shown. The patient with 46,Y, t(X;8)(p22;q11) showed a slightly lower than normal testosterone level. By NCBI-Blast search, we found four testis-specific genes, t-complex-associated-testis-expressed 1-like (TCTE1L), Ferritin, heavy polypeptide-like 17 (FTHL17), Testis expressed sequence 13A (TEX13A), and Testis expressed sequence 13B (TEX13B) located near breakpoints on X chromosome. FTHL17, TEX13A, and TEX13B are spermatogonially-expressed, germ-cell-specific genes. CONCLUSION: This is the first clinical report of azoospermia with reciprocal X-autosome translocations on Xp22 and q22. These translocations on Xp22 and q22 may be direct genetic risk factors for azoospermia.[1]

References

  1. Molecular and cytogenetic characterization of two azoospermic patients with X-autosome translocation. Lee, S., Lee, S.H., Chung, T.G., Kim, H.J., Yoon, T.K., Kwak, I.P., Park, S.H., Cha, W.T., Cho, S.W., Cha, K.Y. J. Assist. Reprod. Genet. (2003) [Pubmed]
 
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