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  • Bache, Iben (author)

An excess of chromosome 1 breakpoints in male infertility.

  • Article/chapterEnglish2004

Publisher, publication year, extent ...

  • 2004-09-15
  • Springer Science and Business Media LLC,2004

Numbers

  • LIBRIS-ID:oai:lup.lub.lu.se:5584fee5-487e-4f07-8914-959c792e2b72
  • https://lup.lub.lu.se/record/1130654URI
  • https://doi.org/10.1038/sj.ejhg.5201263DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:110659376URI

Supplementary language notes

  • Language:English
  • Summary in:English

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  • Subject category:art swepub-publicationtype
  • Subject category:ref swepub-contenttype

Notes

  • 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was observed both for translocation and inversion carriers, especially pericentric inversions, both for published and unpublished cases, and was significantly associated with azoospermia.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.

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  • Van Assche, Elvire (author)
  • Cingoz, Sultan (author)
  • 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)
  • Blennow, ElisabethKarolinska Institutet (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)
  • Kristoffersson, UlfLund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine(Swepub:lu)kgen-ukr (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)
  • Karolinska InstitutetAvdelningen för klinisk genetik (creator_code:org_t)

Related titles

  • In:European Journal of Human Genetics: Springer Science and Business Media LLC12:12, s. 993-10001476-54381018-4813

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