Deletions and duplications of chromosomal segments (copy number variants, CNVs) are a
major source of variation between individual humans and are an underlying factor in human …

During the last quarter of the twentieth century, our knowledge about human genetic
variation was limited mainly to the heterochromatin polymorphisms, large enough to be …

Complex genomic rearrangements (CGRs) consisting of two or more breakpoint junctions
have been observed in genomic disorders. Recently, a chromosome catastrophe …

BACKGROUND: The genetic etiologies of the hyper-IgE syndromes are diverse.
Approximately 60% to 70% of patients with hyper-IgE syndrome have dominant mutations in …

Cancer is perceived as a heterogeneous group of diseases that is characterized by aberrant
patterns of gene expression. In the last decade, an increasing amount of data has pointed to …

Copy number variation (CNV) is a major source of genetic variation among humans. In
addition to existing as benign polymorphisms, CNVs can also convey clinical phenotypes …

In this study, we used deletions at 22q13, which represent a substantial source of human
pathology (Phelan/McDermid syndrome), as a model for investigating the molecular …

Kleefstra syndrome is characterized by the core phenotype of developmental
delay/intellectual disability,(childhood) hypotonia and distinct facial features. The syndrome …

We identified complex genomic rearrangements consisting of intermixed duplications and
triplications of genomic segments at the MECP2 and PLP1 loci. These complex …

Genomic rearrangements in inherited disease and cancer involve gross alterations of
chromosomes or large chromosomal regions and can take the form of deletions …