Aberrant genomic imprinting in chromosome 11p15-associated congenital growth disorders : consequences for DNA-diagnostics

Thesis

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Contents

List of abbreviations

Chapter 1 Introduction

Chapter 2 Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation : occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS

Chapter 3 Epigenotyping as a tool for the prediction of tumor risk and tumor type in patients with Beckwith-Wiedemann syndrome (BWS)

Chapter 4 Epigenotype, phenotype, and tumors in patients with Isolated Hemihyperplasia

Chapter 5 Hypomethylation of the H19 gene causes not only Silver-Russell Syndrome (SRS) but also Isolated Asymmetry or an SRS-like phenotype

Chapter 6 Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylationsensitive high-resolution melting analysis

Chapter 7 Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome

Chapter 8 Lessons from BWS twins : complex maternal and paternal hypomethylation and a common source of haematopoietic stem-cells

Chapter 9 Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions

Chapter 10 Summary and discussion

Chapter 11 Samenvatting

Dankwoord

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