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

Pabst, Brigitte; Arslan‐Kirchner, Mine; Schmidtke, J.; Miller, Katelyn

doi:10.1159/000076280

Cited by 5 publications

(5 citation statements)

References 20 publications

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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: 50%

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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Section: Discussionmentioning

confidence: 50%

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 on an inverted duplication of region 8p12→23.3 presenting with significant motor development delay, hypotonia, facial dysmorphisms, ventricular septal defects and corpus callosum agenesis, most of which were reported in previous studies [ 4 - 7 , 11 ]. The regions 8p21 and 8p22 were commonly duplicated in all patients with inv dup (8p).…”

Section: Discussionmentioning

confidence: 84%

“…To date, a number of patients with inverted duplication of 8p have been identified through cytogenetic analysis [ 1 - 7 ] and different breakpoints related to 8p have been reported [ 4 ]. The distal breakpoint was predominantly in 8p23 and was found in combination with various proximal breakpoints (centromere, p11 and p12), but predominantly within 8p11.…”

Section: Introductionmentioning

confidence: 99%

Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report

Aktaş

Weise²,

Ütine

et al. 2009

Mol Cytogenet

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“…This latter patient carried the smallest duplication (4.9 Mb) of our series. Patients 16,17,18,19,and 20 were from the same family and included two sibs and their children (Figure 1). All five individuals presented with mild to moderate ID without any major associated malformation.…”

Section: Neurodevelopmental Featuresmentioning

confidence: 99%

Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum

et al. 2021

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Inverted duplication deletion 8p [invdupdel(8p)] is a complex and rare chromosomal rearrangement that combines a distal deletion and an inverted interstitial duplication of the short arm of chromosome 8. Carrier patients usually have developmental delay and intellectual disability (ID), associated with various cerebral and extra-cerebral malformations. Invdupdel(8p) is the most common recurrent chromosomal rearrangement in ID patients with anomalies of the corpus callosum (AnCC). Only a minority of invdupdel (8p) cases reported in the literature to date had both brain cerebral imaging and chromosomal microarray (CMA) with precise breakpoints of the rearrangements, making genotype-phenotype correlation studies for AnCC difficult. In this study, we report the clinical, radiological, and molecular data from 36 new invdupdel(8p) cases including three fetuses and five individuals from the same family, with breakpoints characterized by CMA. Among those, 97% (n = 32/33) of patients presented with mild to severe developmental delay/ID and 34% had seizures with mean age of onset of 3.9 years (2 months-9 years). Moreover, out of the 24 patients with brain MRI and 3 fetuses with neuropathology analysis, 63% (n = 17/27) had AnCC. We review additional data from 99 previously published patients with invdupdel(8p) and compare data of 17 patients from the literature with both CMA analysis and brain imaging to refine genotypephenotype correlations for AnCC. This led us to refine a region of 5.1 Mb common to duplications of patients with AnCC and discuss potential candidate genes within this region.

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

Cited by 5 publications

References 20 publications

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

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

Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report

Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum

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