Skip Navigation


Hum. Reprod. Advance Access originally published online on March 11, 2004
This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF ) Freely available
Right arrow All Versions of this Article:
19/4/886    most recent
deh186v1
Right arrow Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (13)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Kühnert, B.
Right arrow Articles by Nieschlag, E.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Kühnert, B.
Right arrow Articles by Nieschlag, E.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Human Reproduction, Vol. 19, No. 4, 886-888, April 2004
© 2004 European Society of Human Reproduction and Embryology

Case Report: Natural transmission of an AZFc Y-chromosomal microdeletion from father to his sons

B. Kühnert, J. Gromoll, E. Kostova, P. Tschanter, C.M. Luetjens, M. Simoni and E. Nieschlag*

Institute of Reproductive Medicine of the University, D-48129 Muenster, Germany*To whom correspondence should be addressed at: Institute of Reproductive Medicine of the University, Domagkstr. 11, D-48129 Münster. Tel.: +49 251 8356097; Fax: +49 251 8356093; e-mail: nieschl{at}uni-muenster.de

Y-chromosomal microdeletions, associated with oligozoospermia or azoospermia, are usually de novo deletions in the affected patients. We report here the rare case of an affected father who transmitted a Y-chromosomal microdeletion to at least two of his three sons naturally and who also fathered a daughter. The extent of the deletion, which was determined with new STS-primers and covers 3.5 Mb, was identical in the father and his azoospermic sons. To determine any possibly modifying influence of other genes involved in spermatogenesis, we analysed two polymorphisms of the DAZL gene, the autosomal homologue of the deleted DAZ gene. DAZL and DAZ might be functionally related to each other. However, we found identical polymorphisms in exon 2 and 3 of the DAZL gene, in both father and his sons, corresponding to the most prevalent genotype in fertile men. Thus, other genes or environmental factors must modify spermatogenesis in men with identical Y-chromosomal microdeletions.

Key words: AZFc Y-chromosomal microdeletion/DAZL gene polymorphism/natural transmission/spermatogenesis


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 Hum ReprodHome page
W. J. Huang, Y.-W. Lin, K.-N. Hsiao, K. S. Eilber, E. C. Salido, and P. H. Yen
Restricted expression of the human DAZ protein in premeiotic germ cells
Hum. Reprod., June 1, 2008; 23(6): 1280 - 1289.
[Abstract] [Full Text] [PDF]

Home page
 Hum ReprodHome page
A. Hellani, S. Al-Hassan, A. Al-Duraihim, and S. Coskun
Y chromosome microdeletions: are they implicated in teratozoospermia?
Hum. Reprod., December 1, 2005; 20(12): 3505 - 3509.
[Abstract] [Full Text] [PDF]

Home page
 Mol Hum ReprodHome page
M. Lynch, D.S. Cram, A. Reilly, M.K. O'Bryan, H.W.G. Baker, D.M. de Kretser, and R.I. McLachlan
The Y chromosome gr/gr subdeletion is associated with male infertility
Mol. Hum. Reprod., July 1, 2005; 11(7): 507 - 512.
[Abstract] [Full Text] [PDF]

Home page
 Mol Hum ReprodHome page
X.-J. Yang, T. Shinka, S. Nozawa, H.-T. Yan, M. Yoshiike, M. Umeno, Y. Sato, G. Chen, T. Iwamoto, and Y. Nakahori
Survey of the two polymorphisms in DAZL, an autosomal candidate for the azoospermic factor, in Japanese infertile men and implications for male infertility
Mol. Hum. Reprod., July 1, 2005; 11(7): 513 - 515.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
T E King, E Bosch, S M Adams, E J Parkin, Z H Rosser, and M A Jobling
Inadvertent diagnosis of male infertility through genealogical DNA testing
J. Med. Genet., April 1, 2005; 42(4): 366 - 368.
[Full Text] [PDF]

Home page
 Hum ReprodHome page
K. Hucklenbroich, J. Gromoll, M. Heinrich, C. Hohoff, E. Nieschlag, and M. Simoni
Partial deletions in the AZFc region of the Y chromosome occur in men with impaired as well as normal spermatogenesis
Hum. Reprod., January 1, 2005; 20(1): 191 - 197.
[Abstract] [Full Text] [PDF]


Disclaimer:
Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.