Experts and Doctors on karyotyping in Leuven, Flanders, Belgium


Locale: Leuven, Flanders, Belgium
Topic: karyotyping

Top Publications

  1. Debeer P, Huysmans C, Van de Ven W, Fryns J, Devriendt K. Carpal and tarsal synostoses and transverse reduction defects of the toes in two brothers heterozygous for a double de novo NOGGIN mutation. Am J Med Genet A. 2005;134:318-20 pubmed
    ..The parents were clinically unaffected, and these two mutations were not detected in their white blood cells or buccal mucosa. This indicates the presence of gonadal mosaicism or a low level of somatic mosaicism in one of the parents...
  2. Verburgh E, Achten R, Louw V, Brusselmans C, Delforge M, Boogaerts M, et al. A new disease categorization of low-grade myelodysplastic syndromes based on the expression of cytopenia and dysplasia in one versus more than one lineage improves on the WHO classification. Leukemia. 2007;21:668-77 pubmed
    ..This suggests that a standardized dysplasia scoring system, used in conjunction with cytopenia, could improve diagnostic and prognostic sub-categorization of MDS patients...
  3. Lahortiga I, De Keersmaecker K, Van Vlierberghe P, Graux C, Cauwelier B, Lambert F, et al. Duplication of the MYB oncogene in T cell acute lymphoblastic leukemia. Nat Genet. 2007;39:593-5 pubmed
    ..Our results identify duplication of MYB as an oncogenic event and suggest that MYB could be a therapeutic target in human T-ALL...
  4. Put N, Konings P, Rack K, Jamar M, Van Roy N, Libouton J, et al. Improved detection of chromosomal abnormalities in chronic lymphocytic leukemia by conventional cytogenetics using CpG oligonucleotide and interleukin-2 stimulation: A Belgian multicentric study. Genes Chromosomes Cancer. 2009;48:843-53 pubmed publisher
    ..However, neither conventional cytogenetics nor FISH detected all aberrations, demonstrating the complementary nature of these techniques. ..
  5. Thienpont B, Bena F, Breckpot J, Philip N, Menten B, Van Esch H, et al. Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome. J Med Genet. 2010;47:155-61 pubmed publisher
    ..3 duplications demonstrates the reduced reproductive fitness associated with this genotype. Inheritance of the duplication from a clinically normal parent in two cases indicates that the associated phenotype is incompletely penetrant. ..
  6. Fletcher C, Dal Cin P, De Wever I, Mandahl N, Mertens F, Mitelman F, et al. Correlation between clinicopathological features and karyotype in spindle cell sarcomas. A report of 130 cases from the CHAMP study group. Am J Pathol. 1999;154:1841-7 pubmed
    ..There is a clear need to further study and understand the significance of multiple chromosomal abnormalities in this group of mesenchymal neoplasms with the particular goal of determining their role in the process of tumor development...
  7. Cokelaere K, Debiec Rychter M, De Wolf Peeters C, Hagemeijer A, Sciot R. Hyaline vascular Castleman's disease with HMGIC rearrangement in follicular dendritic cells: molecular evidence of mesenchymal tumorigenesis. Am J Surg Pathol. 2002;26:662-9 pubmed
    ..It also provides a possible molecular pathway explaining stromal overgrowths and stromal neoplasms developing from this disorder...
  8. Peeters H, Vermeesch J, Fryns J. A cryptic duplication 22q13.31 to qter leads to a distinct phenotype with mental retardation, microcephaly and mild facial dysmorphism. Genet Couns. 2008;19:365-71 pubmed
    ..The application of array-CGH in patients with mental retardation and only very mild dysmorphism may allow to detect small 22qter duplications more frequently. ..
  9. Denayer E, Brems H, De Cock P, Evans G, Van Calenbergh F, Bowers N, et al. Pathogenesis of vestibular schwannoma in ring chromosome 22. BMC Med Genet. 2009;10:97 pubmed publisher
    ..Our findings indicate that patients with a ring 22 should be monitored for NF2-related tumours starting in adolescence. ..

More Information


  1. Beert E, Brems H, Daniƫls B, De Wever I, Van Calenbergh F, Schoenaers J, et al. Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumors. Genes Chromosomes Cancer. 2011;50:1021-32 pubmed publisher
    ..These data support the hypothesis that atypical neurofibromas are premalignant tumors, with the CDKN2A/B deletion as the first step in the progression toward MPNST...
  2. Sciot R, De Wever I, Debiec Rychter M. Lipoblastoma in a 23-year-old male: distinction from atypical lipomatous tumor using cytogenetic and fluorescence in-situ hybridization analysis. Virchows Arch. 2003;442:468-71 pubmed
    ..The diagnostic value of cytogenetic/molecular analysis in the differential diagnosis of lipomatous tumors is underscored as well...
  3. Backx L, Fryns J, Marcelis C, Devriendt K, Vermeesch J, Van Esch H. Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome. Am J Med Genet A. 2010;152A:319-26 pubmed publisher
    ..Breakpoint analysis using array painting revealed that the Quaking (QKI) gene that maps in 6q26 is disrupted, suggesting that haploinsufficiency of this gene plays a role in the 6q- clinical phenotype. ..