De novo inverted duplication 9p21pter involving telomeric repeated sequences

Sanlaville, Damien; Baumann, Clarisse; Lapierre, Jean-Michel; Romana, Serge; Collot, Nathalie; Cacheux, Valère; Turleau, C; Tachdjian, Gérard

doi:10.1002/(sici)1096-8628(19990312)83:2<125::aid-ajmg8>3.0.co;2-0

Cited by 20 publications

(12 citation statements)

References 26 publications

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“…However, in the previous cases, the investigators did not specifically look for such repeat sequences. Actually, interstitial telomeres were found in a 9p duplication [26] but not in 12 terminal duplications involving diverse chromosomes [27]. In contrast, interstitial telomeric and/or subtelomeric sequences have been detected in both triplications alluded to in previous studies [7,8], in a tandem 15q telomeric translocation [28], as well as in 9/21 (43%) translocations and rings concerning chromosomes other than chromosome number 15 [29].…”

Section: Discussionmentioning

confidence: 88%

A Girl with 15q Overgrowth Syndrome and dup(15)(q24q26.3) that Included Telomeric Sequences

et al. 2010

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Distal 15q trisomy or tetrasomy is associated with a characteristic phenotype that includes mild to moderate intellectual disability, abnormal behavior, speech impairment, overgrowth, hyperlaxity, long face, prominent nose, puffy cheeks, pointed chin, small ears, and hand anomalies (mainly arachno-and camptodactyly). We present the case of a 13-yr-old girl with the main clinical features of 15q overgrowth syndrome and a 46,XX,dup (15) The findings in this case are consistent with those in the previous distal 15q trisomy cases that presented with overgrowth and mental retardation. Further, the rearranged chromosome had a double set of directly oriented telomeric and subtelomeric sequences. (Korean J Lab Med 2010;30:318-24)

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Section: Discussionmentioning

confidence: 88%

A Girl with 15q Overgrowth Syndrome and dup(15)(q24q26.3) that Included Telomeric Sequences

et al. 2010

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“…21 Rearrangements of chromosome 9 do not show site-specific breakpoints. [22][23][24][25][26] Therefore, NHEJ seems to be the most likely mechanism for rearrangements of chromosome 9p. 27 In silico sequence analysis of chromosomes 5 and 9 showed the existence in the breakpoint region 5p13.3 of L1PA2, a LINE sequence with homology with L1PA3 in the breakpoint regions in 9p13.3 and in 9p22.1 and with L1PA7 in 9p22.1.…”

Section: Lines Mediating the Rearrangement?mentioning

confidence: 99%

Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation

Chabchoub¹,

Rodríguez

Galán

et al. 2007

Journal of Medical Genetics

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Background: Broken chromosomes must acquire new telomeric ''caps'' to be structurally stable. Chromosome healing can be mediated either by telomerase through neo-telomere synthesis or by telomere capture. Aim: To unravel the mechanism(s) generating complex chromosomal mosaicisms and healing broken chromosomes. Methods: G banding, array comparative genomic hybridization (aCGH), fluorescence in-situ hybridisation (FISH) and short tandem repeat analysis (STR) was performed on a girl presenting with mental retardation, facial dysmorphism, urogenital malformations and limb anomalies carrying a complex chromosomal mosaicism. Results & discussion: The karyotype showed a de novo chromosome rearrangement with two cell lines: one cell line with a deletion 9pter and one cell line carrying an inverted duplication 9p and a non-reciprocal translocation 5pter fragment. aCGH, FISH and STR analysis enabled the deduction of the most likely sequence of events generating this complex mosaic. During embryogenesis, a double-strand break occurred on the paternal chromosome 9. Following mitotic separation of both broken sister chromatids, one acquired a telomere via neotelomere formation, while the other generated a dicentric chromosome which underwent breakage during anaphase, giving rise to the del inv dup(9) that was subsequently healed by chromosome 5 telomere capture. Conclusion: Broken chromosomes can coincidently be rescued by both telomere capture and neo-telomere synthesis.

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“…Duplications of 9p segments have been frequently reported since Rethoré et al [1970] first described the associated syndrome. They were mostly inherited rearrangements, but a few of them were de novo 9p tandem duplications, as recently described by Fujimoto et al [1998], Sanlaville et al [1999], Franchi et al [2000], Kotzot et al [2000], and Tsezou et al [2000].…”

Section: Introductionmentioning

confidence: 83%

Disclosing the mechanisms of origin of de novo short‐arm duplications of chromosome 9

Krepischi

Vianna‐Morgante

2003

American J of Med Genetics Pt A

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Three de novo short-arm duplications of chromosome 9 were investigated by fluorescence in situ hybridization (FISH) and genotyping of microsatellite loci with the aim of disclosing their mechanisms of origin. Two of these duplications were identified as direct and one as an inverted duplication, and they comprised nearly the entire 9p. In the two dirdup(9p), the distal breakpoints were mapped to subtelomeric sequences, whereas the proximal break boundaries were defined by pericentromeric sequences. The maternal origin of both duplications was demonstrated, and the presence of three different alleles in distal loci indicated that these rearrangements must have occurred prezygotically. In the invdup(9p), the proximal breakpoint was mapped at the alphoid sequences, which were partially duplicated on the tip of the rearranged 9p; subtelomeric and telomeric sequences were not detected, allowing the distal breakpoint to be mapped proximally to subtelomeric sequences. Genotyping of microsatellite loci allowed us to conclude that this invdup(9p) chromosome had a paternal origin. Homozygosity throughout the duplicated segment pointed to its probable postzygotic formation. Chromatid rearrangements appeared to have originated these 9p duplications, involving pericentromeric and subtelomeric sequences. These rearrangements might have been the result of recombination events between homologous repeats in these segments.

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De novo inverted duplication 9p21pter involving telomeric repeated sequences

Cited by 20 publications

References 26 publications

A Girl with 15q Overgrowth Syndrome and dup(15)(q24q26.3) that Included Telomeric Sequences

A Girl with 15q Overgrowth Syndrome and dup(15)(q24q26.3) that Included Telomeric Sequences

Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation

Disclosing the mechanisms of origin of de novo short‐arm duplications of chromosome 9

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