Detection of chromosome aberrations in metaphase and interphase tumor cells by in situ hybridization using chromosome-specific library probes [PDF]
Chromosome aberrations in two glioma cell lines were analyzed using biotinylated DNA library probes that specifically decorate chromosomes 1, 4, 7, 18 and 22 from pter to qter.
A Al-Saadi +38 more
core +1 more source
Fragility in the 14q21q translocation region
Aphidicolin (APC)-induced chromosomal breakage was analyzed for women representing three generations of a single family and carrying a Robertsonian translocation rob(14q21q).
Stacy R. Denison +3 more
doaj +1 more source
Specific metaphase and interphase detection of the breakpoint region in 8q24 of burkitt lymphoma cells by triple-color fluorescence in situ hybridization [PDF]
Triple fluorescence in situ hybridization with a plasmid DNA library from sorted human chromosomes 8 in combination with bacteriophage clones flanking the breakpoint in 8q24 of the Burkitt lymphoma cell line Jl was used for the specific delineation of ...
Anastasi +33 more
core +1 more source
Objective: To define criteria for determining when preimplantation genetic testing for aneuploidy (PGT-A) results are suggestive of a potential balanced chromosomal rearrangement in the egg or sperm source and warrant karyotyping.
Alyssa C. Snider, Ph.D., C.G.C. +5 more
doaj +1 more source
MALT1, BCL10 and FOXP1 in salivary gland mucosa-associated lymphoid tissue lymphomas [PDF]
In view of the certain anatomic site-dependent frequency of chromosomal translocations involved in extranodal marginal zone B cell lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma) pathogenesis, 17 salivary gland MALT lymphoma cases were ...
Isaacson PG +8 more
core +1 more source
Switching on Chromosomal Translocations [PDF]
Abstract Activation-induced deaminase initiates three different antibody diversification reactions: class switch recombination, somatic hypermutation (SHM), and gene conversion. We have shown that, in addition to antibody diversification, activation-induced deaminase can also initiate Burkitt's lymphoma–like c-myc/IgH translocations ...
Almudena R, Ramiro +2 more
openaire +2 more sources
Chromosomal Translocation t (10;19) (q11.2;q13.4) in an Infertile Male
Chromosomal rearrangements are usually associated with male factor infertility. We report here a 34-year-old man suffering from primary infertility for 15 years. The cytogenetic analysis and investigation of Y-chromosome microdeletions were performed.
Murat Kara +3 more
doaj +1 more source
BAC-FISH assays delineate complex chromosomal rearrangements in a case of post-Chernobyl childhood thyroid cancer [PDF]
Structural chromosome aberrations are known hallmarks of many solid tumors. In the papillary form of thyroid cancer (PTC), for example, activation of the receptor tyrosine kinase (RTK) genes, RET and neurotrophic tyrosine kinase receptor type I (NTRK1)
Baumgartner, Adolf +6 more
core +2 more sources
The translocation t(1;19)(q23;p13) with the resulting chimeric TCF3::PBX1 gene is the third most prevalent recurrent chromosomal translocation in acute lymphoblastic leukemia and accounts for 3–5% of cases.
Thomas Burmeister +8 more
doaj +1 more source
Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype. [PDF]
We present the prenatal case of a 12.5-Mb duplication involving 6q25-qter and a 12.2-Mb deletion encompassing 10q26-qter diagnosed by aCGH, while conventional karyotype showed normal results.
Marinescu, Ponnila S +4 more
core +1 more source

