D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p)

Minelli, Antonella; Floridia, Giovanna; Rossi, Elena; Clementi, Maurizio; Tenconi, Romano; Camurri, Lamberto; Bernardi, F; Hoeller, Heidi; Re, Carlo Previde; Maraschio, P; Wood, Stephen L.; Zuffardi, Orsetta; Danesino, Cesare

doi:10.1007/bf01247342

Cited by 34 publications

(34 citation statements)

References 21 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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“…Several reports noted that distal deletions of 8p were consistently associated with terminal inversion duplications of 8p, suggesting a common mechanism generating these rearrangements (Minelli et al, 1993;Mitchell et al, 1994;de Die-Smulders et al, 1995). Floridia et al (1996) demonstrated that the duplication inversion chromosome 8 was of maternal meiotic origin in all cases investigated, and they proposed that an anomalous recombination between inverted repeats on 8p during maternal meiosis would account for the der(8) chromosome.…”

Section: Introductionmentioning

confidence: 99%

Stabilization of a terminal inversion duplication of 8p by telomere capture from 18q

Kostiner

Nguyen

Cox

et al. 2002

Cytogenet Genome Res

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Terminal inversion duplications of the short arm of chromosome 8 are one of the more common chromosome rearrangements in humans. We report an infant with multiple congenital anomalies, in whom karyotype analysis showed a terminal inversion duplication of 8p including additional material at the distal end of the derivative chromosome, shown to be of chromosome 18q origin. Terminal inversion duplications of 8p are the result of meiotic recombination between inverted olfactory gene receptor repeats in 8p. This recombination generates a dicentric intermediate that breaks during anaphase, and the broken chromosome end is stabilized by telomere healing or telomere capture. The origin of the telomeric region in the majority of constitutional chromosome deletions studied to date was shown to be from telomere healing; the de novo addition of telomeric repeats. In the proband a cytogenetically detectable piece of chromosome 18q was present on the distal end of the derivative 8, suggesting that this chromosome was stabilized by telomere capture of 18q. FISH analyses of additional cases may yield information as to whether telomere capture or telomere-healing events are the predominant mechanism of chromosome stabilization in terminal inversion duplications of 8p.

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“…Despite the different breakpoints published, the clinical findings are quite homogenous for most cases (for review see Feldman et al, 1993;de Die-Smulders et al, 1995;Tonk et al, 2001). Many characteristic find- (Minelli et al, 1993). ings like large mouth, prominent lower lip, large ears, are also present in our patient, with the exception of frontal bossing.…”

Section: Discussionmentioning

confidence: 78%

“…This has been well documented (Floridia et al, 1996). The duplicated region was determined by molecular and molecular cytogenetic methods as p23.1 → cen in three patients and p23.1 → p11.2 in five patients, whereas, based on GTGbanded chromosomes Minelli et al (1993) assigned the duplicated segment to p22 → p12 in seven of these patients and to p22.1 → p21.1 in one patient. Also in the present study the breakpoints assigned by FISH studies were more precise than those based on GTG-banding.…”

Section: Discussionmentioning

confidence: 99%

The application of region-specific probes for the resolution of duplication 8p: a case report and a review of the literature

Pabst

Arslan‐Kirchner²,

Schmidtke³

et al. 2003

Cytogenet Genome Res

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The structural rearrangement in the short arm of a chromosome 8 in a clinically affected patient has been reinvestigated by FISH using whole chromosome painting and region specific YAC probes. An inverted duplication of the segment p22→p11.2 and a deletion of the subtelomeric region were demonstrated. By this approach, a more detailed resolution of the duplication/deletion 8p was possible. With the application of molecular cytogenetic methods the existence of different duplication segments within the clinical entity of duplication/deficiency 8p can be shown.

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D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p)

Cited by 34 publications

References 21 publications

Inverted duplications deletions: underdiagnosed rearrangements??

Inverted duplications deletions: underdiagnosed rearrangements??

Stabilization of a terminal inversion duplication of 8p by telomere capture from 18q

The application of region-specific probes for the resolution of duplication 8p: a case report and a review of the literature

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