Comparative genomic in situ hybridization discloses chromosomal copy number changes in a transplanted brain tumor line of the rat (Rattus norvegicus)

Comparative genomic hybridization studies have shown gains in chromosome region 2p as the most common imbalance in classical Hodgkin lymphoma (cHL). The minimal region of gain contained 2 candidate oncogenes, REL and BCL11A. This study examined the involvement of REL and BCL11A loci in 44 primary cases of cHL by combined immunophenotyping and interphase cytogenetics (FICTION). A median 2p13 copy number above the tetraploid range was detected in 24 (55%) cases. Adjustment for centromere 2 copy number indicated gains of 2p13 in 11 of 31 cHLs (35%) with 8 (26%) high-level amplifications. One cHL displayed selective amplification of the REL locus not affectingBCL11A; another case studied by FICTION and a cHL with cytogenetic 2p change investigated by fluorescence in situ hybridization showed signal patterns suggesting breakpoints in the region spanned by the REL probe. These data indicate thatREL rather than BCL11A may be the target of the 2p13 alterations in cHL.

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CHROMOSOME IDENTIFICATION IN THE GENUS LILIUM USING COMPARATIVE GENOMIC IN SITU HYBRIDIZATION (CGISH)

Acta Horticulturae ◽

10.17660/actahortic.2010.855.3 ◽

2010 ◽

pp. 35-40

Author(s):

R. Barba-Gonzalez ◽

M. de los Milagros Revuelta-Arreola ◽

A.G. Rodriguez-Rodriguez ◽

F. Santacruz-Ruvalcaba

Keyword(s):

In Situ Hybridization ◽

Genomic In Situ Hybridization ◽

Comparative Genomic ◽

Chromosome Identification

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Analyses of brain tumor cell lines confirm a simple model of relationships among fluorescence in situ hybridization, DNA index, and comparative genomic hybridization

Genes Chromosomes and Cancer ◽

10.1002/(sici)1098-2264(199712)20:4<311::aid-gcc1>3.0.co;2-4 ◽

1997 ◽

Vol 20 (4) ◽

pp. 311-319 ◽

Cited By ~ 23

Author(s):

Gayatry Mohapatra ◽

Dan H. Moore ◽

Dong H. Kim ◽

Lovedeep Grewal ◽

William C. Hyun ◽

...

Keyword(s):

Brain Tumor ◽

In Situ Hybridization ◽

Simple Model ◽

Tumor Cell ◽

Fluorescence In Situ Hybridization ◽

Comparative Genomic ◽

Tumor Cell Lines ◽

Dna Index ◽

Brain Tumor Cell

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

Balkan Journal of Medical Genetics ◽

10.1515/bjmg-2015-0009 ◽

2015 ◽

Vol 18 (1) ◽

pp. 77-84 ◽

Cited By ~ 4

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.

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