onr:"swepub:oai:lup.lub.lu.se:5584fee5-487e-4f07-8914-959c792e2b72"
Search: onr:"swepub:oai:lup.lub.lu.se:5584fee5-487e-4f07-8914-959c792e2b72" > An excess of chromo...
- 1 of 1
- Previous record
- Next record
- To hitlist
An excess of chromosome 1 breakpoints in male infertility.
- Bache, Iben (author)
- Van Assche, Elvire (author)
- Cingoz, Sultan (author)
- show more...
- Bugge, Merete (author)
- Tümer, Zeynep (author)
- Hjorth, Mads (author)
- Lundsteen, Claes (author)
- Lespinasse, James (author)
- Winther, Kirsten (author)
- Niebuhr, Anita (author)
- Kalscheuer, Vera (author)
- Liebaers, Inge (author)
- Bonduelle, Maryse (author)
- Tournaye, Herman (author)
- Ayuso, Carmen (author)
- Barbi, Gotthold (author)
- Bourrouillou, Georges (author)
- Brondum-Nielsen, Karen (author)
- Bruun-Petersen, Gert (author)
- Croquette, Marie-Francoise (author)
- Dahoun, Sophie (author)
- Dallapiccola, Bruno (author)
- Davison, Val (author)
- Delobel, Bruno (author)
- Duba, Hans-Christoph (author)
- Duprez, Laurence (author)
- Ferguson-Smith, Malcolm (author)
- FitzPatrick, David R (author)
- Grace, Elizabeth (author)
- Hansmann, Ingo (author)
- Hultén, Maj (author)
- Jensen, Peter KA (author)
- Jonveaux, Philippe (author)
- Lopez-Pajares, Isidora (author)
- McGowan-Jordan, Jean (author)
- Murken, Jan (author)
- Orera, Maria (author)
- Parkin, Tony (author)
- Passarge, Eberhard (author)
- Ramos, Carmen (author)
- Rasmussen, Kirsten (author)
- Schempp, Werner (author)
- Schubert, Regine (author)
- Schwinger, Eberhard (author)
- Shabtai, Fiorella (author)
- Smith, Kim (author)
- Stallings, Raymond (author)
- Stefanova, Margarita (author)
- Tranebjerg, Lisbeth (author)
- Turleau, Catherine (author)
- van der Hagen, Carl Birger (author)
- Vekemans, Michel (author)
- Kokalj Vokac, Nadja (author)
- Wagner, Klaus (author)
- Wahlstroem, Jan (author)
- Zelante, Leopoldo (author)
- Tommerup, Niels (author)
- show less...
- (creator_code:org_t)
- 2004-09-15
- 2004
- English.
- In: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1476-5438 .- 1018-4813. ; 12:12, s. 993-1000
- Journal article (peer-reviewed)
Abstract
Subject headings
Close
- In a search for potential infertility loci, which might be revealed by clustering of chromosomal breakpoints, we compiled 464 infertile males with a balanced rearrangement from Mendelian Cytogenetics Network database (MCNdb) and compared their karyotypes with those of a Danish nation-wide cohort. We excluded Robertsonian translocations, rearrangements involving sex chromosomes and common variants. We identified 10 autosomal bands, five of which were on chromosome 1, with a large excess of breakpoints in the infertility group. Some of these could potentially harbour a male-specific infertility locus. However, a general excess of breakpoints almost everywhere on chromosome 1 was observed among the infertile males: 26.5 versus 14.5% in the cohort. This excess was observed both for translocation and inversion carriers, especially pericentric inversions, both for published and unpublished cases, and was significantly associated with azoospermia. The largest number of breakpoints was reported in 1q21; FISH mapping of four of these breakpoints revealed that they did not involve the same region at the molecular level. We suggest that chromosome 1 harbours a critical domain whose integrity is essential for male fertility.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- male infertility
- chromosome 1
- translocation
- inversion
- autosomal loci
Publication and Content Type
- art (subject category)
- ref (subject category)
Find in a library
- European Journal of Human Genetics (Search for host publication in LIBRIS)
To the university's database
- 1 of 1
- Previous record
- Next record
- To hitlist
Find more in SwePub
- By the author/editor
- Bache, Iben
- Van Assche, Elvi ...
- Cingoz, Sultan
- Bugge, Merete
- Tümer, Zeynep
- Hjorth, Mads
- show more...
- Lundsteen, Claes
- Lespinasse, Jame ...
- Winther, Kirsten
- Niebuhr, Anita
- Kalscheuer, Vera
- Liebaers, Inge
- Bonduelle, Marys ...
- Tournaye, Herman
- Ayuso, Carmen
- Barbi, Gotthold
- Blennow, Elisabe ...
- Bourrouillou, Ge ...
- Brondum-Nielsen, ...
- Bruun-Petersen, ...
- Croquette, Marie ...
- Dahoun, Sophie
- Dallapiccola, Br ...
- Davison, Val
- Delobel, Bruno
- Duba, Hans-Chris ...
- Duprez, Laurence
- Ferguson-Smith, ...
- FitzPatrick, Dav ...
- Grace, Elizabeth
- Hansmann, Ingo
- Hultén, Maj
- Jensen, Peter KA
- Jonveaux, Philip ...
- Kristoffersson, ...
- Lopez-Pajares, I ...
- McGowan-Jordan, ...
- Murken, Jan
- Orera, Maria
- Parkin, Tony
- Passarge, Eberha ...
- Ramos, Carmen
- Rasmussen, Kirst ...
- Schempp, Werner
- Schubert, Regine
- Schwinger, Eberh ...
- Shabtai, Fiorell ...
- Smith, Kim
- Stallings, Raymo ...
- Stefanova, Marga ...
- Tranebjerg, Lisb ...
- Turleau, Catheri ...
- van der Hagen, C ...
- Vekemans, Michel
- Kokalj Vokac, Na ...
- Wagner, Klaus
- Wahlstroem, Jan
- Zelante, Leopold ...
- Tommerup, Niels
- show less...
- About the subject
-
- MEDICAL AND HEALTH SCIENCES
- MEDICAL AND HEAL ...
- and Basic Medicine
- and Medical Genetics
- Articles in the publication
- European Journal ...
- By the university
- Lund University
- Karolinska Institutet
Search outside SwePub
- Extend your search to:
- Google Book Search
- Google Scholar
Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.
- Copyright © LIBRIS - National Library Systems
- LIBRIS.kb.se
