Molecular cytogenetic analysis of follicular lymphoma (FL) provides detailed characterization of chromosomal instability associated with the t(14;18)(q32;q21) positive and negative subsets and histologic progression

2007 ◽  
Vol 118 (2-4) ◽  
pp. 337-344 ◽  
Author(s):  
G. Nanjangud ◽  
P.H. Rao ◽  
J. Teruya-Feldstein ◽  
G. Donnelly ◽  
J. Qin ◽  
...  
Keyword(s):  
Follicular Lymphoma ◽  
Cytogenetic Analysis ◽  
Chromosomal Instability ◽  
Detailed Characterization ◽  
Molecular Cytogenetic

Prenatal and postnatal characterization of Y chromosome structural anomalies by molecular cytogenetic analysis

2002 ◽  
Vol 22 (9) ◽  
pp. 802-805 ◽  
Author(s):  
C. Hernando ◽  
M. Carrera ◽  
I. Ribas ◽  
N. Parear ◽  
R. Baraibar ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Cytogenetic Analysis ◽  
Molecular Cytogenetic ◽  
Structural Anomalies

scholarly journals Discrimination of distinct subpopulations within a tumor with combined double immunophenotyping and interphase cytogenetics.

1993 ◽  
Vol 41 (11) ◽  
pp. 1641-1644 ◽  
Author(s):  
K Weber-Matthiesen ◽  
A Müller-Hermelink ◽  
J Deerberg ◽  
H Scherthan ◽  
B Schlegelberger ◽  
...  
Keyword(s):  
Follicular Lymphoma ◽  
Tumor Cells ◽  
Cytogenetic Analysis ◽  
Malignant Cells ◽  
Double Staining ◽  
Interphase Cytogenetics ◽  
Normal Cells ◽  
Microscopic Evaluation ◽  
Tumor Clone

We describe a method that enables detection and immunophenotypical characterization of distinct subpopulations within a cytogenetically defined tumor clone. Coexisting normal cells do not hinder microscopic evaluation because they can be distinguished from cytogenetically aberrant tumor cells. This is also true when normal and neoplastic cells cannot be clearly distinguished by cytology or immunohistochemistry, i.e., if both constituents have similar immunophenotypes and morphology. The method is based on fluorescence double staining for two different antigens combined with interphase cytogenetic analysis. It is referred to as "Fluorescence immunophenotyping and Interphase Cytogenetics as a Tool for Investigation of Neoplasms (FICTION)." In a case of follicular lymphoma we demonstrate that FICTION can differentiate bcl-2-positive malignant and non-malignant cells and can verify the presence of bcl-2-positive but cytogenetically inconspicuous T-lymphocytes.

scholarly journals Molecular Cytogenetic Characterization of a Non-Robertsonian Dicentric Chromosome 14;19 Identified in a Girl with Short Stature and Amenorrhea

2012 ◽  
Vol 2012 ◽  
pp. 1-5
Author(s):  
Usha R. Dutta ◽  
Vijaya Kumar Pidugu ◽  
Ashwin Dalal
Keyword(s):  
Short Stature ◽  
Cytogenetic Analysis ◽  
Clinical Phenotype ◽  
Chromosome Rearrangement ◽  
Dicentric Chromosome ◽  
Derivative Chromosome ◽  
Molecular Cytogenetic ◽  
Cytogenetic Characterization

We report a 16-year-old girl who presented with short stature and amenorrhea. Initially the cytogenetic analysis showed the presence of a mosaic non-Robertsonian dicentric chromosome involving chromosomes 14 and 19. Subsequent molecular cytogenetic analysis by fluorescencein situhybridization (FISH) using whole chromosome paints, centromeric probes, as well as gene specific probes confirmed the dicentric nature of the derivative chromosome and indicated that the rearrangement involved the short arms of both of these chromosomes. Furthermore, we also determined that the chromosome 19p13.3 breakpoint occurred within the terminal 1 Mb region. This is the first report of a mosaic non-Robertsonian dicentric chromosome involving chromosomes 14 and 19 with the karyotype determined as 45,XX,dic(14;19)(p11.2;p13.3)[35]/46,XX[15], and we suggest that the chromosome rearrangement could be the cause of clinical phenotype.

Clinical and molecular cytogenetic characterization of two cases of inverted duplication deletion 8p

2020 ◽  
pp. 41-42
Author(s):  
Д.А. Юрченко ◽  
М.Е. Миньженкова ◽  
Е.Л. Дадали ◽  
Н.В. Шилова
Keyword(s):  
Mental Retardation ◽  
Congenital Heart ◽  
Heart Defects ◽  
Clinical Manifestations ◽  
Formation Mechanisms ◽  
Agenesis Of Corpus Callosum ◽  
Molecular Cytogenetic ◽  
Inverted Duplication ◽  
Cytogenetic Characterization

Синдром инвертированной дупликации короткого плеча хромосомы 8 со смежной терминальной делециенй (inv dup del(8p), ORPHA 96092) - редкая хромосомная аномалия (ХА) с частотой 1/10000-1/30000 живорожденных. В статье представлены клинические и молекулярно-цитогенетические характеристики двух неродственных пациентов с синдромом inv dup del(8p) и уточнены механизмы формирования хромосомного дисбаланса. Inverted duplication deletion 8p syndrome (inv dup del(8p), ORPHA 96092) is a rare chromosomal abnormality with a frequency of 1:10,000 - 30,000 newborns. Clinical manifestations of this syndrome include mental retardation, facial anomalies, hypoplasia/agenesis of corpus callosum, scoliosis and/or kyphosis, hypotonia, congenital heart defects. The article presents the clinical and molecular cytogenetic characteristics of two patients with inv dup del (8p) syndrome and clarifies the formation mechanisms.

Intramolecular Proton Transfer in the Isomerization of Hydroxyacetone: A Detailed Characterization Based on Reaction Force Analysis and the Bond Fragility Spectrum

2020 ◽  
Author(s):  
Wallace Derricotte ◽  
Huiet Joseph
Keyword(s):  
Chemical Potential ◽  
Reaction Force ◽  
Intramolecular Proton Transfer ◽  
Intermediate Energy ◽  
Force Analysis ◽  
Activation Energy Barrier ◽  
Detailed Characterization ◽  
Proton Transfers ◽  
Reaction Force Constant

The mechanism of isomerization of hydroxyacetone to 2-hydroxypropanal is studied within the framework of reaction force analysis at the M06-2X/6-311++G(d,p) level of theory. Three unique pathways are considered: (i) a step-wise mechanism that proceeds through formation of the Z-isomer of their shared enediol intermediate, (ii) a step-wise mechanism that forms the E-isomer of the enediol, and (iii) a concerted pathway that bypasses the enediol intermediate. Energy calculations show that the concerted pathway has the lowest activation energy barrier at 45.7 kcal mol<sup>-1</sup>. The reaction force, chemical potential, and reaction electronic flux are calculated for each reaction to characterize electronic changes throughout the mechanism. The reaction force constant is calculated in order to investigate the synchronous/asynchronous nature of the concerted intramolecular proton transfers involved. Additional characterization of synchronicity is provided by calculating the bond fragility spectrum for each mechanism.

DETAILED CHARACTERIZATION OF EUROPA'S RIDGE MORPHOLOGY

2016 ◽  
Author(s):  
Janelle A.F. Heitmeier ◽  
◽  
Emily S. Martin ◽  
Jordan M. Bretzfelder ◽  
D. Alex Patthoff ◽  
...  
Keyword(s):  
Detailed Characterization

The Problem of Divine Hiddenness

2018 ◽  
Author(s):  
Michael C. Rea
Keyword(s):  
Problem Of Evil ◽  
Philosophical Discussion ◽  
Detailed Characterization ◽  
The Past ◽  
Divine Hiddenness ◽  
The Problem Of Evil ◽  
The Relationship

This chapter provides a detailed characterization of the various meanings of the term “divine hiddenness,” carefully and rigorously articulates the version of the problem of divine hiddenness that has dominated contemporary philosophical discussion for the past twenty-five years, and then explains the relationship between that problem and the problem of evil.

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