Chromosome instability is a hallmark of tumorigenesis. This study establishes that
chromosome instability is also common during early human embryogenesis. A new array …

Background: Chromosomal abnormalities are a major cause of mental retardation and
multiple congenital anomalies (MCA/MR). Screening for these chromosomal imbalances …

Methods for haplotyping and DNA copy-number typing of single cells are paramount for
studying genomic heterogeneity and enabling genetic diagnosis. Before analyzing the DNA …

OBJECTIVE: To test the hypothesis that patients with advanced maternal age (AMA) have a
higher implantation rate (IR) after embryo transfer of embryos with a normal chromosomal …

Array CGH (comparative genomic hybridization) enables the identification of chromosomal
copy number changes. The availability of clone sets covering the human genome opens the …

Preimplantation genetic screening is being scrutinized, as recent randomized clinical trials
failed to observe the expected significant increase in live birth rates following fluorescence …

X-linked ichthyosis (XLI) is often associated with a recurrent microdeletion at Xp22. 31 due
to non-allelic homologous recombination between the CRI-S232 low-copy repeat regions …

Chromosome instability is inherent to human IVF embryos, but the full spectrum and
developmental fate of chromosome anomalies remain uncharacterized. Using haplotyping …

STUDY QUESTION Can reduced representation genome sequencing offer an alternative to
single nucleotide polymorphism (SNP) arrays as a generic and genome-wide approach for …

Background: Kabuki syndrome (KS) is a rare, clinically recognisable, congenital mental
retardation syndrome. The aetiology of KS remains unknown. Methods: Four carefully …