High-resolution karyotyping by oligonucleotide microarrays : the next revolution in cytogenetics
Gijsbers, A.C.J.
Citation
Gijsbers, A. C. J. (2010, November 30). High-resolution karyotyping by oligonucleotide microarrays : the next revolution in cytogenetics. Retrieved from
https://hdl.handle.net/1887/16187
Version: Corrected Publisher’s Version
License: Licence agreement concerning inclusion of doctoral thesis in the Institutional Repository of the University of Leiden
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High-resolution karyotyping by oligonucleotide microarrays: the next
revolution in cytogenetics
Proefschrift
ter verkrijging van
de graad van Doctor aan de Universiteit van Leiden, op gezag van de Rector Magnificus prof. mr. P.F. van der Heijden,
volgens besluit van het College voor Promoties te verdedigen op dinsdag 30 november 2010
klokke 15.00 uur
door
Antonia Christina Johanna Gijsbers
geboren te Beuningen
in 1981
Promotiecommissie
Promotores: Prof. dr. E. Bakker Prof. dr. M.H. Breuning
Co-promotor: Dr. C.A.L. Ruivenkamp
Overige leden: Prof. dr. H.J. Tanke
Prof. dr. J. Vermeesch (Katholieke Universiteit te Leuven, België) Dr. J. Schoumans (Universiteit van Lausanne, Zwitserland)
The research described in this thesis and the printing of this thesis was financially supported by the Department of Clinical Genetics, Leiden University Medical Center.
ISBN: 978-90-816164-1-6
© 2010, Antoinet Gijsbers Printed by: Ipskamp, Enschede
Cover: ©iStockphoto.com/enot-poloskun
Contents
Chapter 1: Introduction
Chapter 2: SNP array and mental retardation diagnostics
2.1 A new diagnostic workflow for patients with mental retardation and/
or multiple congenital abnormalities: test arrays first Eur J Hum Genet (2009) 17:1394-1402
Chapter 3: Interpretation of copy number variants
3.1 Extending the phenotype of recurrent rearrangements of 16p11.2:
deletions found in mentally retarded patients without autism and in normal individuals
Eur J Med Genet (2009) 52:77-87
3.2 Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes
Eur J Med Genet (2010) 53:227-233
3.3 Duplications on the X-chromosome in males with mental retardation:
pathogenic or benign variants?
Clin Genet (2010) in press
3.4 Mosaicism with a normal cell line and an unbalanced autosomal reciprocal translocation; three new cases and review of the literature.
Manuscript submitted Chapter 4: Case reports
4.1 A 400 kb duplication, 2.4 Mb triplication and 130 kb duplication of 9q34.3 in a patient with severe mental retardation
Eur J Med Genet (2008) 51:479-487
4.2 A subtle familial translocation t(3;21)(p26.3;q22.3): apparently healthy boy with a 3p deletion and 21q duplication
Cytogenet Genome Res (2010) 128:245-249 Chapter 5: Other patient groups
5.1 Identification of copy number variants associated with BPES-like phenotypes
Hum Genet (2008) 124:489-498
5.2 Genome-wide SNP array analysis in patients with features of Sotos syndrome
Horm Res Paediatr (2010) 73:265-274 Chapter 6: Discussion
Summary/Samenvatting Curriculum Vitae
List of publications Dankwoord
Appendix (color figures)
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