scholarly journals Spectral Karyotyping and SNP Microarray Analysis Define Uniparental Disomy (UPD) as a Novel Mutational Mechanism in MSI- and CSI-Colorectal Cancers

2008 ◽  
Vol 30 (6) ◽  
pp. 507-507
Author(s):  
Ralph Melcher ◽  
Waltraud Zopf ◽  
Elena Hartmann ◽  
Andreas Rosenwald ◽  
Holger Hoehn ◽  
...  
Keyword(s):  
Microarray Analysis ◽  
Uniparental Disomy ◽  
Colorectal Cancers ◽  
Spectral Karyotyping ◽  
Snp Microarray

Detection of Genomic Imbalances Involved in Common Chromosomal Rearrangements of Acute Leukemia by Cytogenomic SNP Microarray Analysis

2014 ◽  
Vol 207 (6) ◽  
pp. 289-290
Author(s):  
A. Yenamandra ◽  
F.C. Wheeler ◽  
A.B. Hollis ◽  
L. Barba ◽  
Y. Wang ◽  
...  
Keyword(s):  
Acute Leukemia ◽  
Microarray Analysis ◽  
Chromosomal Rearrangements ◽  
Snp Microarray ◽  
Genomic Imbalances

Large-scale identification of human bone remains via SNP microarray analysis with reference SNP database

2020 ◽  
Vol 47 ◽  
pp. 102293
Author(s):  
Sohee Cho ◽  
Moon-Young Kim ◽  
Ji Hyun Lee ◽  
Hwan Young Lee ◽  
Soong Deok Lee
Keyword(s):  
Microarray Analysis ◽  
Large Scale ◽  
Human Bone ◽  
Snp Microarray ◽  
Bone Remains

Utility of SNP Microarray in the Diagnosis of MDS

Blood ◽  
2012 ◽  
Vol 120 (21) ◽  
pp. 4806-4806
Author(s):  
Peter Papenhausen ◽  
Stuart Schwartz ◽  
Henry Y. Dong ◽  
Alan F. List ◽  
Ronald Thomason
Keyword(s):  
Copy Number ◽  
Neutral Loss ◽  
Diagnostic Testing ◽  
Uniparental Disomy ◽  
Selective Advantage ◽  
Copy Number Alterations ◽  
Driver Genes ◽  
Jak2 Mutation ◽  
Snp Microarray ◽  
Early Primary

Abstract Abstract 4806 A series of 206 bone marrow aspirates/blood submitted for diagnostic testing for possible MDS/MPN was studied by high resolution SNP microarray to determine the efficacy of this technology for detecting clonal copy number alterations and copy neutral loss of heterozygosity. The latter, acquired uniparental disomy (aUPD), is associated with oncogene mutations that through mitotic recombination have converted to the homozygous state, offering additional selective advantage to daughter cells. Of the 206 patient samples classified as possible MDS, 76 were abnormal by the array. Thirty one of these were either copy neutral or demonstrated copy number alterations below the resolution of cytogenetics. Twenty-three cases demonstrated aUPD and in 14 of these it was the only abnormality detected. Two of these 14 had multiple aUPD (9q/14q and 1p/4q/14q). When the aUPD clones were accompanied by copy number alterations, they could be seen as either the early primary alteration or as a later evolutionary event. The most common segmental UPD regions in MDS were 4q(9), 7q(4),11q(4) and 14q(4) while 9p(4) was the most common a(UPD in the patients with MPN which was likely to be associated with a homozygous JAK2 mutation (confirmed in two cases). The small MPN group (12 cases) demonstrated eight clones with aUPD, only three of which had copy number alterations. All the aUPDs found in this study involved terminal chromosome arm exchange and almost all involved a percentage of the DNA tested, consistent with an acquired change. Whole chromosome aUPD was not seen in these patients. There were three instances of possible interstitial LOH which were not included in this report until normal patient DNA can be obtained to confirm this uncommon observation. Two of these three showed mosaic LOH consistent with an acquired change. The most common deletions below the resolution of cytogenetics involved the RUNX1 and TET2 genes. In summary, the SNP microarray increased the abnormal clone detection from 45 by cytogenetics to 76 in cases of MDS and from 4 to 8 in the small MPN cohort, underscoring the utility of the testing while laying the groundwork for the discovery of new driver genes in the aUPD regions in the pathogenesis of MDS. Disclosures: Papenhausen: LabCorp: Employment. Schwartz:LabCorp: Employment. Thomason:LabCorp: Employment.

scholarly journals SNP Microarray in FISH Negative Clinically Suspected 22q11.2 Microdeletion Syndrome

Scientifica ◽  
2016 ◽  
Vol 2016 ◽  
pp. 1-18 ◽  
Author(s):  
Ashutosh Halder ◽  
Manish Jain ◽  
Amanpreet Kaur Kalsi
Keyword(s):  
Intensive Care ◽  
Chromosomal Abnormalities ◽  
Uniparental Disomy ◽  
Fish Analysis ◽  
Microdeletion Syndrome ◽  
Clinical Criteria ◽  
Snp Microarray ◽  
Pathogenic Cnvs ◽  
22Q11.2 Microdeletion

The present study evaluated the role of SNP microarray in 101 cases of clinically suspected FISH negative (noninformative/normal) 22q11.2 microdeletion syndrome. SNP microarray was carried out using 300 K HumanCytoSNP-12 BeadChip array or CytoScan 750 K array. SNP microarray identified 8 cases of 22q11.2 microdeletions and/or microduplications in addition to cases of chromosomal abnormalities and other pathogenic/likely pathogenic CNVs. Clinically suspected specific deletions (22q11.2) were detectable in approximately 8% of cases by SNP microarray, mostly from FISH noninformative cases. This study also identified several LOH/AOH loci with known and well-defined UPD (uniparental disomy) disorders. In conclusion, this study suggests more strict clinical criteria for FISH analysis. However, if clinical criteria are few or doubtful, in particular newborn/neonate in intensive care, SNP microarray should be the first screening test to be ordered. FISH is ideal test for detecting mosaicism, screening family members, and prenatal diagnosis in proven families.

scholarly journals Correction: Informatics Enhanced SNP Microarray Analysis of 30 Miscarriage Samples Compared to Routine Cytogenetics

PLoS ONE ◽  
2012 ◽  
Vol 7 (8) ◽  
Author(s):  
Ruth B. Lathi ◽  
Jamie A. M. Massie ◽  
Megan Loring ◽  
Zachary P. Demko ◽  
David Johnson ◽  
...  
Keyword(s):  
Microarray Analysis ◽  
Snp Microarray

scholarly journals Spectral karyotyping suggests additional subsets of colorectal cancers characterized by pattern of chromosome rearrangement

2001 ◽  
Vol 98 (5) ◽  
pp. 2538-2543 ◽  
Author(s):  
W. M. Abdel-Rahman ◽  
K. Katsura ◽  
W. Rens ◽  
P. A. Gorman ◽  
D. Sheer ◽  
...  
Keyword(s):  
Chromosome Rearrangement ◽  
Colorectal Cancers ◽  
Spectral Karyotyping

HD-SNP Microarray Analysis of the Study 9 High Risk ALL Patients—Increased Yield of Important Prognostic Information

2017 ◽  
Vol 214-215 ◽  
pp. 42-43
Author(s):  
Nadine Berry ◽  
Rodney Scott ◽  
Rosemary Sutton ◽  
Toby Trahair ◽  
Philip Rowlings ◽  
...  
Keyword(s):  
High Risk ◽  
Microarray Analysis ◽  
Prognostic Information ◽  
Snp Microarray
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