Genomic rearrangements can result in losses, amplifications, translocations and inversions
of DNA fragments thereby modifying genome architecture, and potentially having clinical …

Chromothripsis represents a novel phenomenon in the structural variation landscape of
cancer genomes. Here, we analyze the genomes of ten patients with congenital disease …

Background Non syndromic craniosynostoses are the most frequent craniofacial
malformations worldwide. They represent a wide and heterogeneous group of entities, in …

Abstract Background Tourette Syndrome (TS) is a neuropsychiatric disorder in children
characterized by motor and verbal tics. Although several genes have been suggested in the …

The subject of structural chromosome rearrangements is an immense one, to which entire
catalogs have been devoted. Indeed, there are theoretically an almost infinite number of …

We report a large series of 173 patients with physical and/or neurological abnormalities and
a de novo imbalance identified by array CGH. Breakpoint intervals were screened for the …

Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome associated with genetic
or epigenetic alterations in one of two imprinted domains on chromosome 11p15. 5. Rarely …

The balanced translocations are accepted as chromosomal rearrangements that do not
generally reflect any phenotypic evidence. However, phenotypical influences can be seen in …

Purpose To evaluate the clinical, biochemical and cytogenetic analyses of a couple with
reproductive failure. Methods A couple with a history of recurrent pregnancy loss was …

The elucidation of genomic disorders began with molecular technologies that enabled
detection of genomic changes which were (a) smaller than those resolved by traditional …