scholarly journals Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE

2011 ◽  
Vol 20 (22) ◽  
pp. 4360-4370 ◽  
Author(s):  
Patricia B.S. Celestino-Soper ◽  
Chad A. Shaw ◽  
Stephan J. Sanders ◽  
Jian Li ◽  
Michael T. Murtha ◽  
...  
Keyword(s):  
Copy Number ◽  
Array Cgh ◽  
Copy Number Variants

scholarly journals Copy number variants prioritization after array-CGH analysis – a cohort of 1000 patients

2015 ◽  
Vol 8 (1) ◽  
Author(s):  
Isabel Marques Carreira ◽  
Susana Isabel Ferreira ◽  
Eunice Matoso ◽  
Luís Miguel Pires ◽  
José Ferrão ◽  
...  
Keyword(s):  
Copy Number ◽  
Array Cgh ◽  
Copy Number Variants

scholarly journals Genomic Copy Number Variants in CML Patients With the Philadelphia Chromosome (Ph+): An Update

2021 ◽  
Vol 12 ◽  
Author(s):  
Heyang Zhang ◽  
Meng Liu ◽  
Xiaoxue Wang ◽  
Yuan Ren ◽  
Young Mi Kim ◽  
...  
Keyword(s):  
Copy Number ◽  
Array Cgh ◽  
Fusion Gene ◽  
Philadelphia Chromosome ◽  
Copy Number Variants ◽  
Chromosomal Anomaly ◽  
Comparative Genomic ◽  
Ph Chromosome ◽  
Patient Prognosis

BackgroundSubmicroscopic segmental imbalances detected by array-comparative genomic hybridization (array-CGH) were discovered to be common in chronic myeloid leukemia (CML) patients with t(9;22) as the sole chromosomal anomaly. To confirm the findings of the previous study and expand the investigation, additional CML patients with t(9;22) as the sole chromosomal anomaly were recruited and copy number variants (CNVs) were searched for.MethodsKaryotyping tests were performed on 106 CML patients during January 2010–September 2019 in our Genetics Laboratory. Eighty-four (79.2%) patients had the Philadelphia (Ph) chromosome as the sole chromosomal anomaly. Only 49(58.3%) of these 84 patients had sufficient marrow or leukemia blood materials to additionally be included in the array-CGH analysis. Fluorescence in situ hybridization (FISH) was carried out to confirm the genes covered by the deleted or duplicated regions of the CNVs.Results11(22.4%) out of the 49 patients were found to have one to three somatic segmental somatic segmental (CNVs), including fourteen deletions and three duplications. The common region associated with deletions was on 9q33.3-34.12. Identified in five (45.5%) of the 11 positive patients with segmental CNVs, the deletions ranged from 106 kb to 4.1 Mb in size. Two (18.2%) cases had a deletion in the ABL1-BCR fusion gene on der (9), while three (27.3%) cases had a deletion in the ASS1 gene. The remaining CNVs were randomly distributed on different autosomes.ConclusionSubtle genomic CNVs are relatively common in CML patients without cytogenetically visible additional chromosomal aberrations (ACAs). Long-term studies investigating the potential impact on patient prognosis and treatment outcome is underway.

ARRAY CGH AND ITS APPLICATIONS IN PRENTAL DIAGNOSIS

2011 ◽  
pp. 5-22
Author(s):  
Viet Nhan Nguyen ◽  
Thi Minh Thi Ha ◽  
Vu Quoc Huy Nguyen
Keyword(s):  
Prenatal Diagnosis ◽  
Copy Number ◽  
Array Cgh ◽  
Copy Number Variants ◽  
Advanced Maternal Age ◽  
Structural Rearrangements ◽  
Fetal Ultrasound ◽  
Chorionic Villi ◽  
Ultrasound Findings ◽  
Chromosome Imbalances

In prenatal diagnosis, array CGH has several advantages more than traditional chromosomal analysis. It can detect all of aneuploidies, deletions, duplications and unbalanced structural rearrangements of chromosomes with higher resolution, avoidance of culturing amniocytes or chorionic villi, automation, and faster turnaround times. But array CGH has high cost, inability to detect balanced inversions or translocations as well as polyploidy and mosaicism below 20%. Array CGH can identify marker chromosomes and copy number variants (CNVs) of chromosomes but many of them have uncertain clinical significance. So that in prenatal diagnosis array CGH is indicated in the following cases : (1) abnormal fetal ultrasound findings; (2) suspected chromosome imbalances; (3) had children with abnormal chromosomes (4) parents with chromosome balances; (5) advanced maternal age.

Genetic Analysis of Copy Number Variation in Large Chorangiomas

2018 ◽  
Vol 22 (3) ◽  
pp. 236-242 ◽  
Author(s):  
Meeli Sirotkina ◽  
Konstantinos Douroudis ◽  
Magnus Westgren ◽  
Nikos Papadogiannakis
Keyword(s):  
Copy Number ◽  
Large Scale ◽  
Molecular Mechanisms ◽  
Array Cgh ◽  
Copy Number Variants ◽  
Vascular Tumor ◽  
Systematic Investigation ◽  
Comparative Genomic ◽  
Genetic Changes ◽  
Genomic Deletions

Introduction Chorangioma (CA) is the most common nontrophoblastic, vascular tumor-like lesion of the placenta with a reported incidence of 0.5% to 1% in all examined placentas. The underlying molecular mechanisms of CAs are still poorly elucidated, and a systematic investigation of the genetic background of CAs has not previously been done. Materials and Methods Tissue biopsies from 8 large (>40 mm) histologically confirmed CAs and 8 unaffected matched placenta controls, along with standard control DNA samples were analyzed for large genomic deletions and duplications using array comparative genomic hybridization (array-CGH) method. Results Array-CGH analysis revealed no rare or novel copy number variants in the CA samples compared with either standard control DNA or unaffected placenta DNA from the same individual. Discussion In this study, a systematic genetic investigation of 8 large CAs failed to demonstrate any large-scale pathogenic genetic changes. This lack of association might support a nongenetic, nontumorous origin of these lesions; however, additional genetic studies focusing on smaller genomic alterations are required to fully assess any possible genetic contribution.

scholarly journals Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing

2010 ◽  
Vol 42 (5) ◽  
pp. 400-405 ◽  
Author(s):  
Hansoo Park ◽  
Jong-Il Kim ◽  
Young Seok Ju ◽  
Omer Gokcumen ◽  
Ryan E Mills ◽  
...  
Keyword(s):  
High Resolution ◽  
Dna Sequencing ◽  
Copy Number ◽  
Array Cgh ◽  
Copy Number Variants ◽  
Massively Parallel ◽  
Massively Parallel Dna Sequencing

Understanding Schizophrenia: Genetic Causes and Treatment

2019 ◽  
Vol 1 (1) ◽  
pp. 6-12
Author(s):  
Fatima Javeria ◽  
Shazma Altaf ◽  
Alishah Zair ◽  
Rana Khalid Iqbal
Keyword(s):  
Copy Number ◽  
Drug Targets ◽  
Disease Risk ◽  
Mental Disease ◽  
Copy Number Variants ◽  
Aminobutyric Acid ◽  
Epigenetic Mechanisms ◽  
Gamma Aminobutyric Acid ◽  
Wide Range ◽  
Severe Mental Disease

Schizophrenia is a severe mental disease. The word schizophrenia literally means split mind. There are three major categories of symptoms which include positive, negative and cognitive symptoms. The disease is characterized by symptoms of hallucination, delusions, disorganized thinking and speech. Schizophrenia is related to many other mental and psychological problems like suicide, depression, hallucinations. Including these, it is also a problem for the patient’s family and the caregiver. There is no clear reason for the disease, but with the advances in molecular genetics; certain epigenetic mechanisms are involved in the pathophysiology of the disease. Epigenetic mechanisms that are mainly involved are the DNA methylation, copy number variants. With the advent of GWAS, a wide range of SNPs is found linked with the etiology of schizophrenia. These SNPs serve as ‘hubs’; because these all are integrating with each other in causing of schizophrenia risk. Until recently, there is no treatment available to cure the disease; but anti-psychotics can reduce the disease risk by minimizing its symptoms. Dopamine, serotonin, gamma-aminobutyric acid, are the neurotransmitters which serve as drug targets in the treatment of schizophrenia. Due to the involvement of genetic and epigenetic mechanisms, drugs available are already targeting certain genes involved in the etiology of the disease.

Koduojančios ir nekoduojančios genomo sekos variantų bei kopijų skaičiaus pokyčių molekulinis ir funkcinis vertinimas

2020 ◽  
Author(s):  
◽  
Evelina Siavrienė
Keyword(s):  
Genome Sequence ◽  
Copy Number ◽  
Copy Number Variants ◽  
Sequence Variants ◽  
Functional Evaluation

A Molecular and Functional Evaluation of Coding and Non-Coding Genome Sequence Variants and Copy Number Variants

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