Terminal deletions of chromosome 2 with breakpoints at or within band 2q37, ranging from
visible abnormalities to cryptic, subtelomeric deletions, have been recognized with …

Molecular techniques led to the discovery that several chromosome rearrangements
interpreted as terminal duplications were in fact inverted duplications contiguous to terminal …

Parental submicroscopic genomic inversions have recently been demonstrated to be
present in several genomic disorders. These inversions are genomic polymorphisms that …

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 …

Editor—Cryptic telomeric rearrangements are a significant cause of idiopathic mental
retardation. Knightet al 1 found 7.4% of these rearrangements in children with moderate to …

METHODS This study has been approved by the Leicestershire ethics committee. Seven
patients have been described previously. 2, 4, 7, 16, 26 Thirteen additional patients with …

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

Terminal deletions of 1p36 result in a mental retardation syndrome that is presumably
caused by haploinsufficiency of a number of genes. Although monosomy 1p36 is the most …

Ring chromosomes are rare cytogenetic findings and are associated at phenotypic level with
mental retardation and congenital abnormalities. Features specific for ring chromosome …

Paternal duplications of distal 11p result in Beckwith Wiedemann syndrome (BWS), whereas
maternal duplications have not, to our knowledge, been reported previously in the literature …