Trisomy 15 rescue with jumping translocation of distal 15q in Prader-Willi syndrome.

Devriendt, Koenraad; Petit, P; Matthijs, Gert; Vermeesch, Joris Robert; Holvoet, Maureen; Mûelenaere, A De; Marynen, Peter; Cassiman, Jean‐Jacques; Fryns, Jean‐Pierre

doi:10.1136/jmg.34.5.395

Cited by 38 publications

(23 citation statements)

References 13 publications

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“…[31][32][33][34] JT in such cases are, however, also cytogenetically different compared to hematologic malignancies -they preferentially involve other donor chromosome regions and are not trisomic for the jumping region. [31][32][33][34][35] Altogether, the widespread temporally heterogeneous breakpoints of the donor chromosome and the subtelomeric breakpoints on the recipient chromosomes indicate a complex origin of JT: the multiple clones most likely arose more or less simultaneously, followed by clonal selection. In this context, it is noteworthy that a small clone with +3 preceded the unbalanced JT.…”

Section: Discussionmentioning

confidence: 99%

Molecular characterization of jumping translocations reveals spatial and temporal breakpoint heterogeneity

et al. 1998

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Jumping translocations (JT) are characterized by the relocalization of the same part of a donor to several recipient chromosomes. Although JT occasionally are constitutional, most are associated with hematologic malignancies. In such cases, JT usually arise during disease progression and are associated with poor prognosis. Despite its clinical importance, this cytogenetic phenomenon has not been characterized at the molecular level. We have analyzed JT in a juvenile chronic myelomonocytic leukemia that subsequently transformed to an acute myeloid leukemia. Detailed fluorescence in situ hybridization (FISH) analyses showed that the cytogenetically identical donor breakpoint at 3q21 was highly heterogeneous. In fact, more than 10 distinct breakpoints, four of which mapped within YACs, were identified. Analyses of samples during disease progression showed that the breakpoint complexity decreased, indicating clonal selection. Hence, the 3q21 breakpoints displayed a spatial as well as a temporal heterogeneity, revealing that JT are highly unstable, showing great variation in the size of donor segment. The breaks at the recipient chromosomes were mapped within the subtelomeric regions. The general telomere length was not affected and an underlying replication error resulting in microsatellite instability was excluded. We conclude that the emergence of JT is unlikely to cause fusion genes or to affect the expression of genes located in the breakpoint regions. The identification of YACs spanning the breakpoints, ie, YACs 913c7, 937g5, 948c2 and 955g1, may facilitate the isolation of DNA sequences leading to a genetic instability associated with the origin of multiple translocations.

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Section: Discussionmentioning

confidence: 99%

Molecular characterization of jumping translocations reveals spatial and temporal breakpoint heterogeneity

et al. 1998

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“…studied [Rivera et al, 1990;Gross et al, 1996;Von Ballestrem et al, 1996;Devriendt et al, 1997;Jewett et al, 1998;Zahed et al, 2004], additional cell lines were always observed in lymphocyte cultures when compared to fibroblasts. Confirmation in direct preparations would rule out culture induced JT and the fetal karyotype is best reflected in PUBS.…”

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confidence: 95%

“…So the recipient sites were more widely distributed in hematological malignancies than in constitutional JTs. Internal telomere sequences were found in most constitutional JTs studied [Rivera et al, 1990;Park et al, 1992;Rossi et al, 1993;Devriendt et al, 1997;Vermeesch et al, 1997;Jewett et al, 1998;Petit et al, 1998;Reddy and Murphy, 2000;Lefort et al, 2001;Sala et al, 2002;Stankiewicz et al, 2003;Zahed et al, 2004], but not in all JTs in hematological malignancies. It has been suggested that the extended proliferation of cancer cells during the premalignant stage, such as myelodysplasia, results in chromosomal instability due to the loss of telomeric functions.…”

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confidence: 95%

The conundrum of a jumping translocation (JT) in CVS from twins and review of JTs

Reddy

2010

American J of Med Genetics Pt A

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Jumping translocations (JTs) are rare constitutional or acquired rearrangements involving a donor and several receiver chromosomes. They may be inherited or de novo. JTs can be found as a cultural artifact, in normal individuals or in pathological conditions. The clinical consequences range from spontaneous abortion, loss of fetus, chromosome syndrome, congenital abnormalities, and infertility to malignancy. Considering the breakpoints of JTs, they are localized predominantly in repeat regions such as pericentromeric, centromeric, subtelomeric, telomeric, and occasionally interstitial regions that may be in a low copy repeats (LCR) or in a telomere like sequence. Differences between the constitutional and acquired JTs donor breakpoints suggest an independent mechanism in their formation. In this review, a new JT involving a donor chromosome 18p10qter and recipients 17q25qter or 1q25qter found by CVS of a twin pregnancy is described. This case illustrates the diagnostic challenges posed by JTs.In this study, our knowledge on JTs is consolidated to improve identification, management, and counseling.

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“…Most of the previously reported constitutional JTs were shown to involve recipient chromosomes with telomeric breakpoints. These junctions contain interstitial or latent telomeres (Park et al, 1992;Rossi et al, 1993;Devriendt et al, 1997;Hatakeyama et al, 1998;Petit et al, 1998). This finding has led to the suggestion that such telomeric sequences play a major role in the formation of JTs.…”

Section: Discussionmentioning

confidence: 99%

“…The observation of JTs in clones of human fibroblasts and epithelial cells transformed by SV-40 virus (Hoffschir et al, 1992;Kazmierczak et al, 1995) supports the role of viral infection in the initiation of JTs. Constitutional forms of JTs are very rare and are usually ascertained because of associated clinical abnormalities (Lejeune et al, 1979;Gross et al, 1996;Devriendt et al, 1997;Vermeesch et al, 1997;Jewett et al, 1998;Petit et al, 1998; reviewed by Farrell et al, 1993, andDuval et al, 1994) . The most common of the recognizable clinical genetic syndromes associated with JTs are Prader-Willi, Down, and Di George syndromes (Ketterer et al, 1984;Drake , 1985;Farrell et al, 1993).…”

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confidence: 99%

Jumping translocations in spontaneous abortions

Levy

Dunn

Hirschhorn

et al. 2000

Cytogenet Genome Res

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Chromosome translocations involving one donor chromosome and multiple recipient chromosomes have been referred to as jumping translocations (JTs). Acquired JTs are commonly observed in cancer patients, mainly involving chromosome 1. Constitutional forms of JTs mostly involve the acrocentric chromosomes and their satellites and have been reported in patients with clinical abnormalities. Recognizable phenotypes resulting from these events have included Down, Prader-Willi, and DiGeorge syndromes. The presence of JTs in spontaneous abortions has not been previously described. The breakpoints of all JTs occur in areas rich in repetitive DNA (telomeric, centromeric, and nucleolus organizing regions). We report two different unstable chromosome rearrangements in samples derived from spontaneous abortions. The first case involved a chromosome 15 donor. The recipient chromosomes were 1, 9, 15, and 21, and the respective breakpoints were in either the heterochromatic regions or the centromeres. FISH studies confirmed that the breakpoints of the jumping 15 rearrangement did not involve the Prader-Willi region but originated at the centromere or in the proximal short arm. A second case of instability was observed with a rearrangement resulting from a presumed de novo 8;21 translocation. Three JT cell lines were observed. They consisted of a deleted 8p chromosome, a dicentric 8;21 translocation, and an 8q isochromosome. The instability regions appeared to be at the pericentromeric region of chromosome 8 and the satellite region of chromosome 21. Both cases proved to be de novo events. The unstable nature of the JT resulting in chromosomal imbalance most likely contributed to the fetal loss. It appears that JT events may predispose to chromosomal imbalance via nondisjunction and chromosomal rearrangement and, therefore, may be an unrecognized cause of fetal loss.

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Trisomy 15 rescue with jumping translocation of distal 15q in Prader-Willi syndrome.

Cited by 38 publications

References 13 publications

Molecular characterization of jumping translocations reveals spatial and temporal breakpoint heterogeneity

Molecular characterization of jumping translocations reveals spatial and temporal breakpoint heterogeneity

The conundrum of a jumping translocation (JT) in CVS from twins and review of JTs

Jumping translocations in spontaneous abortions

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