Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance.

Barber, John; Joyce, Christine A; Collinson, Morag N.; Nicholson, James C.; Willatt, Lionel; Dyson, H M; Bateman, Mark S.; Green, Andrew J.; Yates, James R.; Dennis, N R

doi:10.1136/jmg.35.6.491

Cited by 69 publications

(58 citation statements)

References 26 publications

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“…Dhooge et al [1994] reported a mother and her two children with a tandem duplication of band 8p22, either 8p22-8p23 or 8p21.3-8p22, with mild mental retardation, facial anomalies and short stature. Interstitial duplication within 8p23 have been reported including speci®cally duplication within band 8p23.1, associated with mild dysmorphology [Gibbons et al, 1999] or normal phenotype [Barber et al, 1998] and duplication of band 8p23.2 associated with a normal phenotype [Engelman et al, 2000]. The clinical features seen in the patients presented here could also be due to the presence of mosaicism in the patient [Woods et al, 1994] and the effect this has in individual tissues.…”

Section: Discussionmentioning

confidence: 55%

Mosaic inv dup(8p) marker chromosome with stable neocentromere suggests neocentromerization is a post-zygotic event

et al. 2001

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Marker chromosomes containing active human neocentromeres have been described in individuals where the chromosomes are non-mosaic, suggesting that they are mitotically stable, but also in individuals where there is mosaicism, raising the possibility of neocentromere instability. We report two independently ascertained individuals who are mosaic for a supernumerary marker chromosome, shown by reverse chromosome painting to have an 8p origin, resulting in mosaicism for tetrasomy 8p23.1-->pter in the patient. The markers have a primary constriction but show no detectable centromeric alpha-satellite DNA. The marker in Patient 1 demonstrated no centromere protein CENP-B binding, but associated with nine different functionally critical centromere proteins. Investigation of peripheral blood lymphocytes from this patient on five separate occasions over a 13-year period showed 23-46% mosaicism for the marker chromosome with no decrease in incidence. In vitro investigation of primary and secondary sub-clones of a lymphoblast cell line derived from the patient demonstrated 100% stability of the marker chromosome indicating that neocentromere instability is unlikely to be responsible for the mosaicism in the patient. This and other available data support a general model of neocentromerization as a post-zygotic event, irrespective of whether the supernumerary chromosome fragment has arisen during meiosis or post-fertilization at mitosis.

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Section: Discussionmentioning

confidence: 55%

Mosaic inv dup(8p) marker chromosome with stable neocentromere suggests neocentromerization is a post-zygotic event

et al. 2001

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“…In most cases this duplication was believed to be a benign variant with no phenotypic effect 12 and described as an euchromatic variant (EV). 13,14 This was disputed by Tsai et al 15 who reported on 12 patients with an 8p23 duplication and a significant phenotype comprising mainly heart defects. Nevertheless, the clinical features of these patients were not evocative of KS.…”

Section: Discussionmentioning

confidence: 70%

Failure to detect an 8p22–8p23.1 duplication in patients with Kabuki (Niikawa–Kuroki) syndrome

et al. 2005

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“…A limited number of studies reported the presence of specific large duplications and deletions that were not apparently related to disease (e.g., Barber et al 1998;Engelen et al 2000). For example, a deleted region originally thought to be associated with ovarian cancer was later found to also be present in healthy in-dividuals (Lin et al 2000).…”

Section: Cnvs In Normal Individualsmentioning

confidence: 99%

Copy number variation: New insights in genome diversity

et al. 2006

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DNA copy number variation has long been associated with specific chromosomal rearrangements and genomic disorders, but its ubiquity in mammalian genomes was not fully realized until recently. Although our understanding of the extent of this variation is still developing, it seems likely that, at least in humans, copy number variants (CNVs) account for a substantial amount of genetic variation. Since many CNVs include genes that result in differential levels of gene expression, CNVs may account for a significant proportion of normal phenotypic variation. Current efforts are directed toward a more comprehensive cataloging and characterization of CNVs that will provide the basis for determining how genomic diversity impacts biological function, evolution, and common human diseases.

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Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance.

Abstract: We present seven families with a cytogenetic duplication ofthe short arm of chromosome 8 at band 8p23

Cited by 69 publications

References 26 publications

Mosaic inv dup(8p) marker chromosome with stable neocentromere suggests neocentromerization is a post-zygotic event

Mosaic inv dup(8p) marker chromosome with stable neocentromere suggests neocentromerization is a post-zygotic event

Failure to detect an 8p22–8p23.1 duplication in patients with Kabuki (Niikawa–Kuroki) syndrome

Copy number variation: New insights in genome diversity

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