Molecular and Cytogenetic Characterization of Two Azoospermic Patients with X-Autosome Translocation View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2003-09

AUTHORS

Suman Lee, Sook-Hwan Lee, Tae-Gyu Chung, Hyun-Joo Kim, Tae-Ki Yoon, In-Pyung Kwak, Sang-Hee Park, Won-Tae Cha, Sung-Won Cho, Kwang-Yul Cha

ABSTRACT

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. More... »

PAGES

385-389

Identifiers

URI

http://scigraph.springernature.com/pub.10.1023/a:1025437329427

DOI

http://dx.doi.org/10.1023/a:1025437329427

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1050618165

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/14531651


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