scholarly journals Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals

2005 ◽  
Vol 13 (11) ◽  
pp. 1205-1212 ◽  
Author(s):  
Julia Baptista ◽  
Elena Prigmore ◽  
Susan M Gribble ◽  
Patricia A Jacobs ◽  
Nigel P Carter ◽  
...  
2019 ◽  
Vol 58 (2) ◽  
pp. 292-295 ◽  
Author(s):  
Manna Sun ◽  
Jiwu Lou ◽  
Qiaoyi Li ◽  
Jianhong Chen ◽  
Yujuan Li ◽  
...  

2020 ◽  
Vol 160 (5) ◽  
pp. 264-271
Author(s):  
Juana Gutierrez ◽  
Gael Aleix-Mata ◽  
Juan A. Marchal ◽  
María Arroyo ◽  
Riccardo Castiglia ◽  
...  

The Talpidae family has a highly stable karyotype. Most of the chromosome studies in this mammal group, however, employed classical cytogenetic techniques. Molecular cytogenetic analyses are still scarce and, for example, no repeated DNA sequences have been described to date. In this work, we used sequence analysis, chromosomal mapping of a LINE1 retroelement sequence, as well as chromosome painting with a whole Y chromosome probe of T. occidentalis to compare the karyotypes of 3 species of the genus Talpa (T. occidentalis, T. romana, and T. aquitania). Our results demonstrate that in Talpa genomes LINE1 sequences are widely distributed on all chromosomes but are enriched in pericentromeric C-band-positive regions. In addition, these LINE1 accumulate on the Y chromosomes of the 3 Talpa species regardless of their euchromatic or heterochromatic condition. Chromosome painting shows that the Y chromosomes in these 3 species are highly conserved. Interestingly, they share sequences with heterochromatic blocks on chromosome pairs 14 and 16 and, to a lesser degree, with the pericentromeric regions of other autosomes. Together, our analyses demonstrate that the repetitive DNA content of chromosomes from Talpa species is highly conserved.


2010 ◽  
Vol 457 (3) ◽  
pp. 397-404 ◽  
Author(s):  
Juliette Haudebourg ◽  
Benjamin Hoch ◽  
Thibault Fabas ◽  
Nathalie Cardot-Leccia ◽  
Fanny Burel-Vandenbos ◽  
...  

1995 ◽  
Vol 81 (6) ◽  
pp. 395-398 ◽  
Author(s):  
Lucia D'Amato

Cytogenetic analyses have demonstrated the association of specific chromosomal changes with particular types of soft tissue tomors. This work describes the molecular cytogenetic approaches to genetic analysis of these tumors. It illustrates how molecular cytogenetics may provide a rapid and sensitive method of diagnosis and can contribute to identify specific genes implied in the aetiology of soft tissue tumors.


Blood ◽  
2010 ◽  
Vol 116 (21) ◽  
pp. 3139-3139
Author(s):  
Irene Homminga ◽  
Rob Pieters ◽  
Anton Langerak ◽  
Johan de Rooi ◽  
Andrew Stubbs ◽  
...  

Abstract Abstract 3139 To identify novel oncogenic pathways in T-cell acute lymphoblastic leukemia (T-ALL), we combined expression profiling of 117 pediatric patient samples and detailed molecular cytogenetic analyses. Using unsupervised and supervised analyses, we identified a novel T-ALL entity that was associated with high expression of cell cycle genes and was accordingly denoted as the proliferative cluster. Patient samples in this cluster were devoid of known oncogenic rearrangements, and clustered together with TLX1-rearranged cases in unsupervised cluster analysis suggesting pathogenic mechanisms are conserved between these cases. Alike TLX1-rearranged cases, patients within this cluster were associated with cortical thymic arrest and expressed CD1 along with CD4 and CD8. Bioinformatic analyses identified NKX2-1 as strong outlier gene that was ectopically expressed in most patients samples belonging to this cluster. One patient sample had high expression of the homologous NKX2-2 gene. Molecular-cytogenetic analyses including the Chromatine Conformation Capture on Chip (4C) method revealed various rearrangement variants of the NKX2-1 locus at 14q13 in 6 patients, including inversions to the T-cell receptor alpha/delta locus (TRAD@) at 14q11, an inversion to the IgH@ locus at 14q32 and a translocation to the TRB@ locus at 7q34. A translocation of NKX2-2 to the TRAD@ locus was identified in the case that ectopically expressed NKX2-2. All these rearrangements were novel, and have not been observed before in human cancer. NKX2-1 rearrangements could be validated in an independent T-ALL cohort. Our data strongly imply that NKX2-1/NKX2-2 represent novel oncogenes for human T-ALL. Disclosures: No relevant conflicts of interest to declare.


2013 ◽  
Vol 112 (1) ◽  
pp. 123-134 ◽  
Author(s):  
Rabeya Begum ◽  
Falk Zakrzewski ◽  
Gerhard Menzel ◽  
Beatrice Weber ◽  
Sheikh Shamimul Alam ◽  
...  

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