scholarly journals De Novo Balanced Translocation t (7;16) (p22.1; p11.2) Associated with Autistic Disorder

2008 ◽  
Vol 2008 ◽  
pp. 1-5 ◽  
Author(s):  
Nadia Bayou ◽  
Ridha M'rad ◽  
Ahlem Belhaj ◽  
Hussein Daoud ◽  
Lamia Ben Jemaa ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Causal Relationship ◽  
Chromosomal Aberrations ◽  
Autistic Disorder ◽  
Fluorescent In Situ Hybridization ◽  
De Novo ◽  
Balanced Translocation ◽  
Bac Clones ◽  
High Incidence

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.

Recovery of a telomere-truncated chromosome via a compensating translocation in maize

Genome ◽  
2011 ◽  
Vol 54 (3) ◽  
pp. 184-195 ◽  
Author(s):  
Robert T. Gaeta ◽  
Tatiana V. Danilova ◽  
Changzeng Zhao ◽  
Rick E. Masonbrink ◽  
Morgan E. McCaw ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescent In Situ Hybridization ◽  
Transgene Expression ◽  
De Novo ◽  
Extra Chromosome ◽  
Single Gene ◽  
B Chromosomes ◽  
Chromosome 1 ◽  
Chromosome 6

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.

The Onset of de novo Hepatocellular Carcinoma after Liver Transplantation can be both of Donor and Recipient origin. A Case Report

2015 ◽  
Vol 24 (3) ◽  
pp. 387-389 ◽  
Author(s):  
Mariarosa Tamè ◽  
Claudio Calvanese ◽  
Alessandro Cucchetti ◽  
Elisa Gruppioni ◽  
Antonio Colecchia ◽  
...  
Keyword(s):  
Hepatocellular Carcinoma ◽  
Liver Transplantation ◽  
In Situ Hybridization ◽  
Sclerosing Cholangitis ◽  
Fluorescent In Situ Hybridization ◽  
De Novo ◽  
Rare Event ◽  
Microsatellite Analysis ◽  
De Novo Hepatocellular Carcinoma

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.

De novo nonreciprocal translocation 1;8 confirmed by fluorescent in situ hybridization

1995 ◽  
Vol 57 (4) ◽  
pp. 579-580 ◽  
Author(s):  
John E. Wiley ◽  
Janice C. Stout ◽  
Shane M. Palmer ◽  
Theodore Kushnick
Keyword(s):  
In Situ Hybridization ◽  
Fluorescent In Situ Hybridization ◽  
De Novo

Fluorescent in situ hybridization (FISH) as a tool to identify chromosomal aberrations in human tumor cells

1993 ◽  
Vol 66 (2) ◽  
pp. 157
Author(s):  
Rachel A. Jesudasan ◽  
M. Rezaur Rahman ◽  
K.L. Ying ◽  
C. Patrick Reynolds ◽  
Eri S. Srivatsan
Keyword(s):  
In Situ Hybridization ◽  
Tumor Cells ◽  
Chromosomal Aberrations ◽  
Fluorescent In Situ Hybridization ◽  
Human Tumor ◽  
Human Tumor Cells

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 ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescent In Situ Hybridization ◽  
Southern Hybridization ◽  
De Novo

Characterization of an unbalanced de novo rearrangement by microsatellite polymorphism typing and by fluorescent in situ hybridization

1995 ◽  
Vol 56 (4) ◽  
pp. 398-402 ◽  
Author(s):  
Jian Zhao ◽  
Patricia L. Gordon ◽  
R. Sid Wilroy ◽  
Paula R. Martens ◽  
Jack Tarleton ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescent In Situ Hybridization ◽  
De Novo ◽  
Microsatellite Polymorphism

scholarly journals Congenital Hydrocephalus and Hemivertebrae Associated With De NOVO Partial Monosomy 6q (6q25.3→qter)

2015 ◽  
Vol 18 (1) ◽  
pp. 77-84 ◽  
Author(s):  
Y Li ◽  
K-W Choy ◽  
H-N Xie ◽  
M Chen ◽  
W-Y He ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Copy Number ◽  
Fluorescent In Situ Hybridization ◽  
De Novo ◽  
Copy Number Variant ◽  
Terminal Deletion ◽  
Congenital Hydrocephalus ◽  
Comparative Genomic ◽  
Partial Monosomy

AbstractThis study was conducted to describe a prenatal case of congenital hydrocephalus and hemivertebrae with a 6q terminal deletion and to investigate the possible correlation between the genotype and phenotype of the proband. We performed an array-based comparative genomic hybridization (aCGH) analysis on a fetus diagnosed with congenital hydrocephalus and hemivertebrae. The deletion, spanning 10.06 Mb from 6q25.3 to 6qter, was detected in this fetus. The results of aCGH, karyotype and fluorescent in situ hybridization (FISH) analyses in the healthy parents were normal, which confirmed that the proband’s copy- number variant (CNV) was de novo. This deleted region encompassed 97 genes, including 28 OMIM genes. We discussed four genes (TBP, PSMB1, QKI and Pacrg) that may be responsible for hydrocephalus while the T gene may have a role in hemivertebra. We speculate that five genes in the 6q terminal deletion region were potentially associated with hemivertebrae and hydrocephalus in the proband.

1796: Analysis of Chromosomal Aneuploidy in Patients with Oligoasthenoteratozoospermia(OAT) Using Fluorescent in-situ Hybridization

2007 ◽  
Vol 177 (4S) ◽  
pp. 596-597
Author(s):  
Joseph P. Alukal ◽  
Bobby B. Najari ◽  
Wilson Chuang ◽  
Lata Murthy ◽  
Monica Lopez-Perdomo ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescent In Situ Hybridization ◽  
Chromosomal Aneuploidy
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