Skip Navigation

This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF ) Freely available
Right arrow Alert me when this article is cited
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 (12)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Rolf, C.
Right arrow Articles by Nieschlag, E.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Rolf, C.
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. 17, No. 9, 2267-2271, September 2002
© 2002 European Society of Human Reproduction and Embryology

Natural transmission of a partial AZFb deletion of the Y chromosome over three generations: Case report

C. Rolf, J. Gromoll, M. Simoni and E. Nieschlag1

Institute of Reproductive Medicine of the University, Domagkstr. 11, D-48149 Münster, Germany

The natural transmission of microdeletions of the Y chromosome is occasionally reported in the literature. Here we describe the natural transmission of a partial AZFb deletion over three generations. PCR amplification of several sequence tagged site markers in the three AZF regions of the Y chromosome was carried out in a patient with oligoasthenoteratozoospermia, his father and his naturally conceived son. The deletion was confirmed by Southern blotting. The propositum, his father and his son showed a probably identical, partial deletion of the distal part of the AZFb region, involving sY130 and sY143. The deletion was confirmed by Southern blotting using the sY130 probe. Partial AZFb microdeletions can be associated with moderate oligozoospermia allowing natural conception and therefore natural transmission of this genetic anomaly. Further studies are needed to define the pathogenetic significance of microdeletions involving sY130 and sY143.

Key words: AZF/fertility/microdeletion/Y chromosome

1 To whom correspondence should be addressed. E-mail: nieschl{at}uni-muenster.de


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
K. Stouffs, W. Lissens, H. Tournaye, A. Van Steirteghem, and I. Liebaers
The choice and outcome of the fertility treatment of 38 couples in whom the male partner has a Yq microdeletion
Hum. Reprod., July 1, 2005; 20(7): 1887 - 1896.
[Abstract] [Full Text] [PDF]

Home page
 Mol Hum ReprodHome page
G. Vinci, F. Raicu, L. Popa, O. Popa, R. Cocos, and K. McElreavey
A deletion of a novel heat shock gene on the Y chromosome associated with azoospermia
Mol. Hum. Reprod., April 1, 2005; 11(4): 295 - 298.
[Abstract] [Full Text] [PDF]

Home page
 Hum Reprod UpdateHome page
J. Gianotten, M.P. Lombardi, A.H. Zwinderman, R. J. Lilford, and F. van der Veen
Idiopathic impaired spermatogenesis: genetic epidemiology is unlikely to provide a short-cut to better understanding
Hum. Reprod. Update, November 1, 2004; 10(6): 533 - 539.
[Abstract] [Full Text] [PDF]

Home page
 Hum ReprodHome page
J. Gianotten, G.H. Westerveld, N. J. Leschot, M. W.T. Tanck, R. J. Lilford, M.P. Lombardi, and F. van der Veen
Familial clustering of impaired spermatogenesis: no evidence for a common genetic inheritance pattern
Hum. Reprod., January 1, 2004; 19(1): 71 - 76.
[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.