The human genome; you gain some, you lose some

Kriek, M. (2007)

Doctoral Thesis

Copy number variations (CNVs) in the human genome are inherent in both evolutionary progression as well as the etiology of disease. The introduction of this thesis will review CNVs that appear to be neutral as well as CNVs that appear to be related to a phenotypic trait. This will be followed by a review of the many different technical approaches that can be used for detecting genomic rearrangements. The articles (chapter II & III) describe several studies that have applied the rapidly evolving techniques for CNV detection to the clinical problem of unexplained mental retardation and congenital malformation(s). The availability of the new diagnostic tools will greatly increase our understanding of the genetic causes of mental retardation and congenital malformation(s), and might one day lead to therapeutic interventions in some cases.

• congenital malformation
• Copy number variations
• Evolutionary progression
• Mental retardation
• Pathogenicity

• All authors: Kriek, M.
• Supervisor: Breuning, M.H.; Ommen, G.J.B. van
• Co-supervisor: Dunnen, J.T. den
• Qualification: Doctor (dr.)
• Awarding Institution: Faculty of Science, Leiden University
• Date: 2007-12-06
• ISBN (print): 9789090222868
• Court: LUMC, afd. Klinische Genetica en Humane Genetica
• Sponsorship: The Netherland Organisation for Health Research and Development (ZonMW). Registration number 940-37-032.