Characterization of a de novo duplication of 11p14→p13, using fluorescent in situ hybridization and Southern hybridization

1991 ◽  
Vol 56 (3-4) ◽  
pp. 129-131 ◽  
Author(s):  
F. Speleman ◽  
M. Mannens ◽  
B. Redeker ◽  
M. Vercruyssen ◽  
P. Van Oostveldt ◽  
...  
1995 ◽  
Vol 56 (4) ◽  
pp. 398-402 ◽  
Author(s):  
Jian Zhao ◽  
Patricia L. Gordon ◽  
R. Sid Wilroy ◽  
Paula R. Martens ◽  
Jack Tarleton ◽  
...  

1990 ◽  
Vol 85 (6) ◽  
pp. 569-575 ◽  
Author(s):  
Frank Speleman ◽  
Bart Van der Auwera ◽  
Kathelijne Mangelschots ◽  
Miet Vercruyssen ◽  
Ton Raap ◽  
...  

Genome ◽  
2011 ◽  
Vol 54 (3) ◽  
pp. 184-195 ◽  
Author(s):  
Robert T. Gaeta ◽  
Tatiana V. Danilova ◽  
Changzeng Zhao ◽  
Rick E. Masonbrink ◽  
Morgan E. McCaw ◽  
...  

Maize-engineered minichromosomes are easily recovered from telomere-truncated B chromosomes but are rarely recovered from A chromosomes. B chromosomes lack known genes, and their truncation products are tolerated and transmitted during meiosis. In contrast, deficiency gametes resulting from truncated A chromosomes prevent their transmission. We report here a de novo compensating translocation that permitted recovery of a large truncation of chromosome 1 in maize. The truncation (trunc-1) and translocation with chromosome 6 (super-6) occurred during telomere-mediated truncation experiments and were characterized using single-gene fluorescent in situ hybridization (FISH) probes. The truncation contained a transgene signal near the end of the broken chromosome and transmitted together with the compensating translocation as a heterozygote to approximately 41%–55% of progeny. Transmission as an addition chromosome occurred in ~15% of progeny. Neither chromosome transmitted through pollen. Transgene expression (Bar) cosegregated with trunc-1 transcriptionally and phenotypically. Meiosis in T1 plants revealed eight bivalents and one tetravalent chain composed of chromosome 1, trunc-1, chromosome 6, and super-6 in diplotene and diakinesis. Our data suggest that de novo compensating translocations allow recovery of truncated A chromosomes by compensating deficiency in female gametes and by affecting chromosome pairing and segregation. The truncated chromosome can be maintained as an extra chromosome or together with the super-6 as a heterozygote.


Author(s):  
John J.M. Engelen ◽  
Wil J.G. Loots ◽  
Jozefa C.M. Albrechts ◽  
Astrid S. Plomp ◽  
Syb B. van der Meer ◽  
...  

2008 ◽  
Vol 2008 ◽  
pp. 1-5 ◽  
Author(s):  
Nadia Bayou ◽  
Ridha M'rad ◽  
Ahlem Belhaj ◽  
Hussein Daoud ◽  
Lamia Ben Jemaa ◽  
...  

The high incidence of de novo chromosomal aberrations in a population of persons with autism suggests a causal relationship between certain chromosomal aberrations and the occurrence of isolated idiopathic autism. We report on the clinical and cytogenetic findings in a male patient with autism, no physical abnormalities and a de novo balanced (7;16)(p22.1;p16.2) translocation. G-banded chromosomes and fluorescent in situ hybridization (FISH) were used to examine the patient's karyotype as well as his parents'. FISH with specific RP11-BAC clones mapping near 7p22.1 and 16p11.2 was used to refine the location of the breakpoints. This is, in the best of our knowledge, the first report of an individual with autism and this specific chromosomal aberration.


2015 ◽  
Vol 24 (3) ◽  
pp. 387-389 ◽  
Author(s):  
Mariarosa Tamè ◽  
Claudio Calvanese ◽  
Alessandro Cucchetti ◽  
Elisa Gruppioni ◽  
Antonio Colecchia ◽  
...  

The occurrence of de novo hepatocellular carcinoma after liver transplantation is a rare event with only few cases reported in the literature. In a post liver transplantation setting distinguishing between a de novo hepatocellular carcinoma from recurrence should be tested with molecular analysis such as fluorescent in situ hybridization (for sex chromosomes) or microsatellite analysis. Nevertheless, a certain degree of epithelial chimerism between recipient and donor tissues could be responsible for the development of de novo hepatocellular carcinoma of recipient origin. We report two cases of de novo hepatocellular carcinoma after liver transplantation. The first one occurred in a patient receiving transplantation for hepatitis C related cirrhosis and hepatocellular carcinoma. A de novo hepatocellular carcinoma developed five years after transplantation and microsatellite analysis revealed the donor origin of the neoplasia. The second one occurred in a patient who received transplantation for secondary sclerosing cholangitis. Hepatocellular carcinoma was found six years after transplantation. Both microsatellite analysis and fluorescent in situ hybridization revealed the recipient origin of the tumor, potentially due to tissue chimerism.


1998 ◽  
Vol 132 (3) ◽  
pp. 495-501 ◽  
Author(s):  
F. Fontana ◽  
J. Tagliavini ◽  
L. Congiu ◽  
M. Lanfredi ◽  
M. Chicca ◽  
...  

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