8p23 duplication reconsidered: is it a true euchromatic variant with no clinical manifestation?

Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome

“…15 Imbalances of the 8p region have been frequently reported with a wide range of different phenotypes, and also in individuals without clinical manifestations. 16,17 The duplication reported by…”

Transmitted duplication of 8p23.1–8p23.2 associated with speech delay, autism and learning difficulties

“…19,20 A cytogenetic duplication of 8p21 to 8p23 was also associated with autism 21 but, like the well-known inverted duplications of 8p (inv dup del(8)s), includes a large more proximal segment of 8p, which contains other candidate genes for syndromic autism.…”

Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level

“…Firstly, duplications confined to 8p23.1 have been associated with a wide variety of presentations including developmental delay and heart disease. 6,8 However, the content of these imbalances has not yet been determined and it is possible that bias of ascertainment may account for some of the affected individuals. Further FISH analysis might identify EVs as well as genuine duplications among these reported cases.…”

“…The cytogenetic appearance of this duplication, with a fine G-dark band at the centre of an expanded G-light 8p23.1 band, was indistinguishable from previously reported EVs 1 and duplications of 8p23.1. 8 Dual-colour FISH with pairs of differentially labelled probes showed that the distal part of 8p23.1 was triplicated (probe 2629I16) and that most of the rest of band 8p23.1 was directly duplicated (Figure 3a -c) including the interval between the OR repeats (probes 211C9 and 589N15). The two copies of the duplicated segment alternated between the three copies of the triplicated segment (Figures 3a -c and 4).…”

“…On the normal chromosome 8, the order of clones 211C9 and 589N15 between REPP and REPD was reversed, consistent with the common inversion found in one in four normal individuals. 11 The karyotype of the proband was: 46,XX,dup (8) …”