Inverted tandem duplication generates a duplication deficiency of chromosome 8p

Dill, F. J.; Schertzer, Michael; Sandercock, James R.; Tischler, Bluma; Wood, Stephen L.

doi:10.1111/j.1399-0004.1987.tb03335.x

Cited by 45 publications

(11 citation statements)

References 9 publications

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“…This is a recurrent rearrangement (about 1:20,000 newborns) reported in the literature since 1976 (1) associated with severe mental retardation, corpus callosum agenesis, important scoliosis in adulthood. The presence of an inverted duplication ("mirror duplication" (2)) had been hypothesized based on the banding pattern, whereas the demonstration that a concurrent deletion was also present in all inv dup(8p) cases had to wait for the availability of molecular techniques (3,4). Further molecular studies (5,6) on several cases demonstrated that the rearrangement had always the same breakpoints, with a single copy region of about 4-5 Mb interposed between the deletion and the duplication region.…”

Section: History Of a Recurrent Rearrangementmentioning

confidence: 99%

Inverted duplications deletions: underdiagnosed rearrangements??

et al. 2009

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Molecular techniques led to the discovery that several chromosome rearrangements interpreted as terminal duplications were in fact inverted duplications contiguous to terminal deletions. Inv dup del rearrangements originate through a symmetric dicentric chromosome that, after asymmetric breakage, generates an inv dup del and a deleted chromosome. In recurrent inverted duplications the dicentric chromosome is formed at meiosis through non‐allelic homologous recombination. In non‐recurrent inv dup del cases, dicentric intermediates are formed by non‐homologous end joining or intrastrand annealing. Some authors hypothesized that in these cases the dicentric may have been formed directly in the zygote. Healing of the broken dicentric chromosomes can occur not only in a telomerase‐dependent way but also through telomere capture and circularization thus creating translocated or ring inv dup del chromosomes. In all the cases reported up to now, the duplicated region was always longer than the deleted one, but we can safely assume that there is another group of rearrangements where the deleted region is longer than the duplicated portion. In general, in these cases, the cytogeneticist will suspect the presence of a deletion and confirm it by FISH with a subtelomeric probe, but he/she will almost certainly miss the duplication. It is likely that the conventional analysis techniques used until now have led to a substantial underestimate of the frequency of inv dup del rearrangements and that the widespread use of array‐CGH in routine analysis will allow a more realistic estimate. Obviously, the concomitant presence of deletion and duplication has important consequences in genotype/phenotype correlations.

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Section: History Of a Recurrent Rearrangementmentioning

confidence: 99%

Inverted duplications deletions: underdiagnosed rearrangements??

et al. 2009

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“…Since then, the application of molecular cytogenetic methods such as fluorescence in situ hybridisation (FISH) and array comparative genomic hybridisation (array CGH) has allowed for a significantly higher level of resolution for detecting and characterising chromosome abnormalities. As a result, the mechanisms responsible for this class of cytogenetic rearrangements have been better elucidated, and inverted duplication with concomitant terminal deletion has since been identified for a number of other chromosomes including 1p2 3 and 1q,4 2p,5 2q,6 3p,7 8 4p,9 10 11 and 4q,12 5p,13 14 7q,15 16 8p,17 18 19 20 9p21 and 9q,22 10p15 and 10q,15 11p,23 14q,8 24 25 15q,26 17p,27 18q,28 21q29 and Xp30 31 and in a variety of ring chromosomes 25 32…”

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confidence: 99%

U-type exchange is the most frequent mechanism for inverted duplication with terminal deletion rearrangements

Rowe¹,

Lee²,

Rector³

et al. 2009

Journal of Medical Genetics

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“…Although the Utype exchange (mechanism 3) is the most frequent inv dup del mechanism in all other chromosome arms [Rowe et al, 2009], the majority of reported inv dup del(8p) can be explained by the mechanisms 1 or 2 mentioned above ( fig. 4 ; table 3 ) [Weleber et al, 1976;Dill et al, 1987;Minelli et al, 1993;Barber et al, 1994;de Die-Smulders et al, 1995;Guo et al, 1995;Floridia et al, 1996;Macmillin et al, 2000;Giglio et al, 2001;Pabst et al, 2003;Felbor et al, 2004;Shimokawa et al, 2004Shimokawa et al, , 2005Cooke et al, 2008;Zuffardi et al, 2009] with few exceptions [Buysse et al, 2009;Rowe et al, 2009]. In this study, the formation of the inv dup del(8p) appears to be caused by mechanism 2 in patient 2, and by mechanism 3 in patient 3 ( fig.…”

Section: Discussionmentioning

confidence: 76%

Telomere Capture as a Frequent Mechanism for Stabilization of the Terminal Chromosomal Deletion Associated with Inverted Duplication

Graf²

2010

Cytogenet Genome Res

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We report 4 interstitial inverted duplications with associated terminal deletions (inv dup del) involving the short arms of chromosomes 5 and 8, and the long arm of chromosome 13 by microarray-based comparative genomic hybridization (aCGH) combined with chromosome banding (GTG banding) and fluorescence in situ hybridization (FISH) analyses. Formation of the intermediate dicentric chromosomes in 3 of them occurred through breakage-fusion-bridge cycle mechanism (U-type exchange mechanism) and in the fourth one it occurred through the mediation of the inverted low-copy repeats on chromosome 8p23.1. Two of these 4 inv dup del were confirmed and a third one was suspected to be associated with telomere capture for the healing of the terminal deletions. These findings indicate that a telomere capture mechanism is frequently used for stabilizing the broken chromosome ends in this type of genomic rearrangements. In addition, the inv dup del(13) represents the first observation of inv dup del on chromosome 13 in humans, the inv dup del(5) represents the first observation of inv dup del(5p) with an associated telomere capture, and unique features of the remaining two inv dup del(8p) were also discussed.

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Inverted tandem duplication generates a duplication deficiency of chromosome 8p

Cited by 45 publications

References 9 publications

Inverted duplications deletions: underdiagnosed rearrangements??

Inverted duplications deletions: underdiagnosed rearrangements??

U-type exchange is the most frequent mechanism for inverted duplication with terminal deletion rearrangements

Telomere Capture as a Frequent Mechanism for Stabilization of the Terminal Chromosomal Deletion Associated with Inverted Duplication

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