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Prof. Niels Tommerup

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Iben Bache

Iben Bache

Visiting scientist / Gæsteforsker

Re-examination of carriers of balanced structural rearrangements

In a systematic questionnaire-based clinical re-examination of all constitutional balanced reciprocal translocation carriers in Denmark, we have collected data on almost 800 cases. We are currently entering these data into a database linked to the Mendelian Cytogenetics Network database (MCNdb) enabling

  1. immediate comparison of breakpoints and associated traits with those of 802 published and 2005 unpublished MCNdb-cases,
  2. identification of candidate loci by use of automatic tools for linking breakpoints and traits with similar traits and genomic regions in OMIM, and
  3. use of graphical tools in MCNdb for visualization of selected data.

The first results of this approach has been the identification of an unexplained, but highly significant excess of chromosomal breakpoints on chromosome 1 in male infertility (Bache et al. 2004). Additionally, FISH mapping of specific breakpoints have identified candidate genes for dyslexia, myopia, myopathia, otosclerosis and preeclampsia.

We have detected several breakpoints/candidate regions for late-onset disorders such as infertility, cancer, bipolar disorder, parkinson, cardiomyopathy, tachycardia, inflammatory bowel disease and other autoimmune disorders some of which are currently studied by FISH in order to identify candidate genes. We have cross-checked these data with other nation-wide registries, to assess the associated risk for Cancer (Bache et al. 2006a) and Autoimmune Diseases (Bache et al. 2007)

In conclusion, by investigating the full spectrum of diseases in 731 carriers of balanced reciprocal translocations without known early-onset disorders in a nation-wide questionnaire-based re-examination, we have found that re-examination of translocation carriers may identify additional genotype-phenotype associations, including late-onset disorders and phenotypes usually considered to be caused by complex genetics inheritance (Bache et al. 2006b).

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Publications related to WJC

17.   Halgren C, Kjaergaard S, Bak M, Hansen C, El-Schich Z, Anderson CM, Henriksen KF, Hjalgrim H, Kirchhoff M, Bijlsma EK, Nielsen M, den Hollander NS, Ruivenkamp CA, Isidor B, Le Caignec C, Zannolli R, Mucciolo M, Renieri A, Mari F, Anderlid BM, Andrieux J, Dieux A, Tommerup N, Bache I. Corpus Callosum Abnormalities, Mental Retardation, Speech Impairment, and Autism in Patients with Haploinsufficiency of ARID1B. Clin Genet. 2012 Sep;82(3):248-55.
16.   Halgren C, Bache I, Bak M, Myatt MW, Anderson CM, Brøndum-Nielsen K, Tommerup N. Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity. Eur J Hum Genet. 2012 May 23. doi: 10.1038/ejhg.2012.92. [Epub ahead of print].
15.   Buonincontri R, Bache I, Silahtaroglu A, Elbro C, Nielsen AM, Ullmann R, Arkesteijn G, Tommerup N. A Cohort of Balanced Reciprocal Translocations Associated with Dyslexia: Identification of Two Putative Candidate Genes at DYX1. Behav Genet. 2011;41:125-33.
14.   Cingöz S, Bache I, Bjerglund L, Ropers HH, Tommerup N, Jensen H, Brøndum-Nielsen K, Tümer Z. Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects. Am J Med Genet A. 2011;155A:203-6.
13.   Sehested LT, Møller RS, Bache I, Andersen NB, Ullmann R, Tommerup N, Tümer Z. Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features. Am J Med Genet A. 2010;152A:3115-9.
12.   Thienpont B, Zhang L, Postma AV, Breckpot J, Tranchevent LC, Van Loo P, Møllgård K, Tommerup N, Bache I, Tümer Z, van Engelen K, Menten B, Mortier G, Waggoner D, Gewillig M, Moreau Y, Devriendt K, Larsen LA. Haploinsufficiency of TAB2 Causes Congenital Heart Defects in Humans. Am J Hum Genet. 2010;86:839-49.
11.   Jørgensen KT, Rostgaard K, Bache I, Biggar RJ, Nielsen NM, Tommerup N, Frisch M. Autoimmune diseases in women with Turners Syndrome. Arthritis Rheum. 2010;62:658-66.
10.   Gilling M, Lauritsen MB, Møller M, Henriksen KF, Vicente A, Oliveira G, Cintin C, Eiberg H, Andersen PS, Mors O, Rosenberg T, Brøndum-Nielsen K, Cotterill RM, Lundsteen C, Ropers HH, Ullmann R, Bache I, Tümer Z, Tommerup N. A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia. Eur J Hum Genet. 2008;16:312-9.
9.PDF  Bache I, Nielsen NM, Rostgaard K, Tommerup N, Frisch M. Autoimmune diseases in a Danish cohort of 4,866 carriers of constitutional structural chromosomal rearrangements. Arthritis Rheum. 2007;56:2402-9.
8.   Belloso JM, Bache I, Guitart M, Caballin MR, Halgren C, Kirchhoff M, Ropers H-H, Tommerup N, Tumer Z. Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome. Eur J Hum Genet. 2007;15:711-3.
7.   Bache I, Brondum-Nielsen K, Tommerup N. Genetic counseling in adult carriers of a balanced chromosomal rearrangement ascertained in childhood: Experiences from a nationwide reexamination of translocation carriers. Genet Med. 2007;9:185-7.
6.   Cingöz S, Bisgaard AM, Bache I, Bryndorf T, Kirchhoff M, Petersen, W, Ropers H-H, Maas N, Van Buggenhout G, Tommerup N, Tumer Z. 4q35 deletion and 10p15 duplication associated with immunodeficiency. Am J Med Genet A. 2006;140:2231-5.
5.   Bache I, Hjorth M, Bugge M, Holstebroe S, Hilden J, Schmidt L, Brondum-Nielsen K, Bruun-Petersen G, Jensen PK, Lundsteen C, Niebuhr E, Rasmussen K, Tommerup N. Systematic re-examination of carriers of balanced reciprocal translocations: a strategy to search for candidate regions for common and complex diseases. Eur J Hum Genet. 2006;14:410-7.
4.   Bache I, Hasle H, Tommerup N, Olsen JH. Population-based study of cancer among carriers of a constitutional structural chromosomal rearrangement. Genes Chromosomes Cancer. 2006;45:231-46.
3.   Tzschach A, Hoffmann K, Hoeltzenbein M, Bache I, Tommerup N, Bommer C, Korner H, Kalscheuer V, Ropers HH. Molecular characterization of a balanced chromosome translocation in psoriasis vulgaris. Clin Genet. 2006;69:189-93.
2.   Tumer Z, Henriksen AM, Bache I, Brixen K, Kalschauer V, Illum N, Rasmussen K, Larsen LA, Tommerup N. Eponymous Jacobsen syndrome: Mapping the breakpoints of the original family suggests an association between the distal 1.1 Mb of chromosome 21 and osteoporosis in Down syndrome. Am J Med Genet A. 2005;135:339-41.
1.   Bache I, Assche EV, Cingoz S, Bugge M, Tumer Z, Hjorth M, Lundsteen C, Lespinasse J, Winther K, Niebuhr A, Kalscheuer V, Liebaers I, Bonduelle M, Tournaye H, Ayuso C, Barbi G, Blennow E, Bourrouillou G, Brondum-Nielsen K, Bruun-Petersen G, Croquette MF, Dahoun S, Dallapiccola B, Davison V, Delobel B, Duba HC, Duprez L, Ferguson-Smith M, FitzPatrick DR, Grace E, Hansmann I, Hulten M, Jensen PK, Jonveaux P, Kristoffersson U, Lopez-Pajares I, McGowan-Jordan J, Murken J, Orera M, Parkin T, Passarge E, Ramos C, Rasmussen K, Schempp W, Schubert R, Schwinger E, Shabtai F, Smith K, Stallings R, Stefanova M, Tranebjerg L, Turleau C, Van Der Hagen CB, Vekemans M, Vokac NK, Wagner K, Wahlstroem J, Zelante L, Tommerup N. An excess of chromosome 1 breakpoints in male infertility. Eur J Hum Genet. 2004;12:993-1000.

Presentations related to WJC

49th Annual Short Course on Medical and Experimental Mammalian Genetics
The Jackson Laboratory, Bar Harbor, Maine, USA, July 20, 2008
13.   Buonincontri R, Bache I, Grigorenko EL, Tommerup N. A systematic chromosomal approach for detection of novel candidate dyslexia loci and genes.
12.   Halgren C, Nielsen NM, Bryndorf T, Brøndum-Nielsen K, Crüger DC, Frisch M, Hansen J, Jensen PKA, Kjærgaard S, Lundsteen C, Rasmussen K, Tommerup N, Bache I. Morbidity and Mortality Among Carriers of de novo Balanced Reciprocal Translocations and Inversions - A Status after 34 Years of Prenatal Examination.
Interplay among genetics, epigenetics and non-coding RNAs, MC-GARD conferences
Madrid, Spain, May 04, 2008
11.   Buonincontri R, Bache I, Grigorenko EL, Tommerup N. A systematic chromosomal approach for detection of novel candidate dyslexia loci and genes.
International Workshop on the Biology and Genetics of Music
Bologna, Italy, May 20, 2007
10.PDF  Tommerup N, Bache I, Vuust P. Searching for genes involved in musicality by a chromosomal approach.
First International Biocurator Meeting
Asilomar, CA, USA, December 08, 2005
9.PDF  Hjorth M, Halgren C, Bache I, Bugge M, Tommerup N. Mendelian Cytogenetic Network Database, www.mcndb.org.
The Marie-Curie Conferences and Training Courses on array CGH and molecular cytogenetics
Bari,Italy, October 18, 2005
8.PDF  Zhang L, Bækvad-Hansen M, Bache I, Bugge M, Ashraf I, Ramsoe J J, Tommerup N, Tumer Z, Larsen L A. FISH Mapping of Chromosomal Breakpoints Associated with Congenital Heart Defects.
European Human Genetics Conference 2005 (ESHG 2005)
Prague, May 07, 2005
7.PDF  Hjorth M, Engenheiro E, Holstebroe S, Bache I, Bugge M, Tumer Z, Tommerup N. Visualization of 2260 chromosomal breakpoints in Mendelian Cytogenetics Network database associated with Mental Retardation.
European Human Genetics Conference 2004
Münich, June 11, 2004
6.PDF  Hjorth M, Holstebroe S, Bache I, Bugge M, Tumer Z, Tommerup N. A method for prediction of candidate disease genes and regions by integration of positional, functional and clinical data.
Bergen Meeting
Bergen, May 05, 2004
5.PDF  Jensen MK, Becher M, Kjaer I, Niebuhr A, Winther K, Cingoz S, Tumer Z, Tommerup N Hjorth M, Bache I. Overhyppighed af kromosom 1 brud blandt infertile mænd med balancerede kromosombrud.
European Human Genetics Conference 2003
Birmingham, England, May 02, 2003
4.PDF  Cingoz S, Bache I, Kirchoff M, Tumer Z, Ropers HH, Lundsteen C, Tommerup N. Deletion 4q35/duplication 10p15 associated with allergy and arthritis.
3.PDF  Bache I, Brondum-Nielsen K, Bugge M, Hansen J, Jensen PKA, Lundsteen C, Niebuhr E, Petersen GB, Rasmussen K, Ropers HH, Tommerup N. Search for late onset diseases among carriers of balanced chromosomal rearrangements.
2.PDF  Gilling M, Tumer Z, Bache I, Bak M, Niebuhr E, Bugge M, Cotterill R M J K. Brøndum-Nielsen3, U. Kristoffersson4, H-H. Ropers 5, N. Tommerup1. FISH-mapping of translocation breakpoints associated with autism.
European Human Genetics Conference 2002
Strasbourg, France, May 24, 2002
1.   Bache I, Tumer Z, Markus S, Ebner S, Lundsteen C, Kalscheuer V, Ropers HH, Tommerup N. A balanced 9;18-translocation associated with growth retardation, speech impairment, deep-set eyes and prominent nose. Eur J Hum Genet 2002:10(supp);130 (poster 0267).

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