Early onset intellectual disability (ID) is one of the largest unsolved problems of health care.
Yet, it has received very little public attention in the past because many health care …

Two developments have sparked new directions in the genetics-to-genomics transition for
research and medical applications: the advance of whole-genome assays by array or DNA …

We report the analyses of breakpoints in 31 phenotypically normal and 14 abnormal carriers
of balanced translocations. Our study assesses the differences between balanced …

Apparently balanced chromosomal rearrangements in individuals with major congenital
anomalies represent natural experiments of gene disruption and dysregulation. These …

Background Carriers of apparently balanced translocations are usually phenotypically
normal; however in about 6% of de novo cases, an abnormal phenotype is present. In the …

Objective To determine gene (s) disrupted in a patient with partial frontal lobe epilepsy and
cognitive impairment with concomitant de novo balanced chromosomal translocation t (2; …

Chromosome translocations in the common epithelial cancers are abundant, yet little is
known about them. They have been thought to be almost all unbalanced and therefore …

We report fluorescence in situ hybridization (FISH) mapping of 152, mostly de novo,
apparently balanced chromosomal rearrangement (ABCR) breakpoints in 76 individuals, 30 …

Abstract 3p deletion syndrome is a rare disorder involving developmental delay, dysmorphic
physical features, and growth retardation. Molecular mapping of several cases in the …

Complex chromosomal rearrangements with more than two breakpoints are rare. We report
on a 5‐year‐old girl, evaluated because of psychomotor delay, ectrodactyly of right hand …