Intellectual disability (ID) has a prevalence of~ 2–3% in the general population, having a
large societal impact. The underlying cause of ID is largely of genetic origin; however …

▪ Abstract Altering DNA copy number is one of the many ways that gene expression and
function may be modified. Some variations are found among normal individuals (,,), others …

AnkyrinG, encoded by the ANK3 gene, is involved in neuronal development and signaling. It
has previously been implicated in bipolar disorder and schizophrenia by association …

Nuclear genomes of human, animals, and plants are organized into subunits called
chromosomes. When isolated into aqueous suspension, mitotic chromosomes can be …

Array-based whole genome investigation or molecular karyotyping enables the genome-
wide detection of submicroscopic imbalances. Proof-of-principle experiments have …

It has been known for 25 years that fusion genes play a central role in leukaemias and
sarcomas but they have been neglected in the common carcinomas, largely because of …

Balanced chromosome rearrangements (BCRs) can cause genetic diseases by disrupting or
inactivating specific genes, and the characterization of breakpoints in disease-associated …

We report on three unrelated mentally disabled patients, each carrying a de novo balanced
translocation that truncates the autism susceptibility candidate 2 (AUTS2) gene at 7q11. 2 …

Background B chromosomes are dispensable and variable karyotypic elements found in
some species of animals, plants and fungi. They often originate from duplications and …

Balanced chromosomal rearrangement (or balanced chromosome abnormality, BCA) is a
common chromosomal structural variation. Next‐generation sequencing has been reported …