A case of de novo i(12p) with 12q whole‐arm translocation mosaicism

Marques-de-Faria, Antônia Paula; Hackel, Christine

doi:10.1002/ajmg.1320330407

Cited by 11 publications

(14 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…A similar rearrangement has been observed for chromosome 12 in one case (Marques-de-Faria and Hackel 1989). Isochromosome for the short arm and a translocation involving the whole long arm have been observed in 15 cases, involving chromosomes 4, 5, 7, 9, 10, and 12.…”

Section: Introductionsupporting

confidence: 76%

Fusion of 9 beta-satellite and telomere (TTAGGG) n sequences results in a jumping translocation

Reddy

Murphy

2000

Human Genetics

View full text Add to dashboard Cite

A newborn was found to have an isochromosome for the short arm of chromosome 9, i(9p) and a jumping translocation of the whole long arm. In 94.4% metaphases, 9q was fused to the telomere of chromosome 19p and, in 5.6% of metaphases, 9q was fused to the telomere of chromosome 8p. The net result was trisomy for the short arm of chromosome 9. With the pan telomere probe, fluorescent in situ hybridization (FISH) investigations found an interstitial telomere on the der(19) and der(8). The 9 beta and classical satellite probes gave a signal only on the long arm of chromosome 9 involved in the jumping translocation. The 9 alpha satellite probe hybridized to i(9p) and not to the other derivative chromosomes. A combination of chromosome 9 (red) and chromosome 19 (green) paint probes used to rapidly screen metaphases for the jumping translocation found 88 metaphases had a der(19)t(9;19) and 4metaphases had a der(8)t(8;9). For the first time, the junction of a jumping translocation has been shown to involve the telomere sequence (TTAGGG)n and beta-satellite sequences by FISH. In this paper, we also review the simultaneous occurrence of an isochromosome for the short arm and translocation of the whole long arm and constitutional jumping translocations.

show abstract

Section: Introductionsupporting

confidence: 76%

Fusion of 9 beta-satellite and telomere (TTAGGG) n sequences results in a jumping translocation

Reddy

Murphy

2000

Human Genetics

View full text Add to dashboard Cite

show abstract

“…The breakpoints of donor chromosomes were more widely distributed in solid tumor cells since bands q11 of different chromosomes were rearranged in 30 out of 46 breakpoints and once in constitutional abnormalities. As in solid tumor cells, the breakpoints in constitutional abnormalities were also distributed among various chromosomes with the exception of those of PWS, which were mainly Fitzgerald and Morris, 1984;Raimondi et al, 1987;Shippey et al, 1990;Ben Neriah et al, 1991;Shikano et al, 1993;Seghezzi et al, 1995;Busson-Le Coniat et al, 1999;Jarvis et al, 1999;Montgomery et al, 2004;Pelz et al, 2005;Wan et al, 2004;Specchia et al, 2005;Bilic et al, 2007; Berger, R., unpublished data Acute myeloid leukemia 12 (including 7 acute monocytic leukemias) Reis et al, 1991;Shinoara, in Shikano et al, 1993;Andreasson et al, 1998;Felix et al, 1998;Batanian et al, 1999;Cuthbert et al 1999;Petkovic et al, 1999;Reddy et al, 1999;Yoshida et al, 1999;Bernard et al, 2000 , 1986;Clarke et al, 1989;Marques-de-Faria and Hackel, 1989;Duval et al, 1994;Gross et al, 1996;von Ballestrem et al, 1996;Rivera et al, 1999;Levy et al, 2000;Reddy and Murphy, 2000*;Sala et al, 2002;Stankiewicz et al, 2003;Zahed et al, 2004;Aslan et al, 2005 Prader-Willi syndrome 5 …”

Section: Resultsmentioning

confidence: 97%

Jumping translocations

Berger

Bernard

2007

Genes Chromosomes & Cancer

View full text Add to dashboard Cite

Jumping translocations (JT) are uncommon constitutional or acquired chromosome rearrangements involving one donor and several recipient chromosomes. They occur in various pathologic conditions and the mechanism of their formation remains elusive. A review of the literature showed that the major localizations of the breakpoints of JTs in human samples are nonrandomly located in pericentromeric and telomeric regions of chromosomes. Interestingly, comparison of the localization of the chromosomal breakpoints and of presence of interstitial DNA repeats showed differences between constitutional and acquired JTs suggesting differences in the mechanisms for the genesis of JTs and their consequences.

show abstract

“…Three patients had an isochromosome for the short arm and the long arm was the donor in a JT. The first patient had minor congenital abnormalities and moderate psychomotor delay with an isochromosome for chromosome 12 short arm [Marques-de-Faria and Hackel, 1989] and a JT of 12q11qter as donor and telomeres 7p22, 7q36, and 11q25 as recipients. The other two patients [Reddy and Murphy, 2000;Wakui et al, 2000], had an isochromosome for 9p and a JT of the long arm of chromosome 9 to telomere or centromere regions of chromosomes 14p13, 13qter and 7q10, or 8pter and 19pter.…”

Section: Postnatalmentioning

confidence: 99%

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

Reddy

2010

American J of Med Genetics Pt A

View full text Add to dashboard Cite

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.

show abstract

A case of de novo i(12p) with 12q whole‐arm translocation mosaicism

Abstract: We report a dup(12p) due to a de novo i(12p) in a girl with mosaicism for 12q whole-arm translocations onto 7p, 7q, and 11q terminal regions. The dup(12p) syndrome was confirmed by clinical, cytogenetic, and LDH-dosage studies.

Cited by 11 publications

References 16 publications

Fusion of 9 beta-satellite and telomere (TTAGGG) n sequences results in a jumping translocation

Fusion of 9 beta-satellite and telomere (TTAGGG) n sequences results in a jumping translocation

Jumping translocations

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

Contact Info

Product

Resources

About