Submicroscopic chromosomal rearrangements that lead to copy-number changes have
been shown to underlie distinctive and recognizable clinical phenotypes. The sensitivity to …

Significant advances have been made over the past 5 years in mapping and characterizing
structural variation in the human genome. Despite this progress, our understanding of …

The olfactory receptor (OR)–gene superfamily is the largest in the mammalian genome.
Several of the human OR genes appear in clusters with⩾ 10 members located on almost all …

This study reports the clinical features of 63 patients with agenesis of the corpus callosum
who received in-depth genetic, clinical, and laboratory testing with the aim to contribute to a …

Recurrent interstitial deletion of a region of 8p23. 1 flanked by the low copy repeats 8p‐OR‐
REPD and 8p‐OR‐REPP is associated with a spectrum of anomalies that can include …

The t (4; 8)(p16; p23) translocation, in either the balanced form or the unbalanced form, has
been reported several times. Taking into consideration the fact that this translocation may be …

Inverted duplications are a common type of copy number variation (CNV) in germline and
somatic genomes. Large duplications that include many genes can lead to both …

Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions
enables refinement of the genotype-phenotype map | Journal of Medical Genetics Skip to …

Telomeres are essential for protecting the ends of chromosomes and preventing
chromosome fusion. Telomere loss has been proposed to play an important role in the …

Background: Chromosomal rearrangements resulting in an interstitial inverted duplication
with concomitant terminal deletion were first described for the short arm of chromosome 8 in …