The underlying cause of mental retardation remains unknown in up to 80% of patients. As
chromosomal aberrations are the most common known cause of mental retardation, several …

Background Tetralogy of Fallot (ToF), the most frequent cyanotic congenital heart disease, is
associated with a wide range of intra-and extracardiac phenotypes. In order to get further …

Purpose Short stature is a common condition of great concern to patients and their families.
Mostly genetic in origin, the underlying cause often remains elusive due to clinical and …

Epigenetic regulation of gene expression, through covalent modification of histones, is a key
process controlling growth and development. Accordingly, the transcription factors …

A cell line, designated SEM, was established from the peripheral blood of a 5‐year‐old girl
in relapse with acute lymphoblastic leukaemia (ALL). Both the lymphoblasts of the patient …

Deletions within HSA band 4p16. 3 cause Wolf‐Hirschhorn syndrome (WHS), which
comprises mental retardation and developmental defects. A WHS critical region (WHSCR) of …

Background: Chromosomal imbalances are a major cause of developmental defects as well
as cancer and often constitute the key in identification of novel disease related genes …

Genetic integrity of induced pluripotent stem cells (iPSCs) is essential for their validity as
disease models and for potential therapeutic use. We describe the comprehensive analysis …

Short stature is a common pediatric disorder affecting 3% of the population. However, the
clinical variability and genetic heterogeneity prevents the identification of the underlying …

The presence of a monozygotic twin gestation with discordant sex of the twins is a very rare
constellation, which is referred to as heterokaryotypic monozygotic pregnancy. This …