scholarly journals SNP-Based Chromosomal Microarray Analysis for Detecting DNA Copy Number Variations in Fetuses with a Thickened Nuchal Fold

2021 ◽  
Vol 13 (6) ◽  
pp. 72
Author(s):  
J.K. Kievskaya ◽  
N.V. Shilova ◽  
I.V. Kanivets ◽  
E.V. Kudryavtseva ◽  
D.V. Pyankov ◽  
...  
Keyword(s):  
Microarray Analysis ◽  
Copy Number ◽  
Copy Number Variations ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Dna Copy Number ◽  
Dna Copy Number Variations

scholarly journals Performance of Chromosomal Microarray Analysis for Detection of Copy Number Variations in Fetal Echogenic Bowel

2021 ◽  
Vol Volume 14 ◽  
pp. 1431-1438
Author(s):  
Xiangqun Fan ◽  
Hailong Huang ◽  
Xiyao Lin ◽  
Huili Xue ◽  
Meiying Cai ◽  
...  
Keyword(s):  
Microarray Analysis ◽  
Copy Number ◽  
Copy Number Variations ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis

Chromosomal Microarray Analysis in Taiwanese Patients with Williams-Beuren Syndrome

2019 ◽  
Vol 159 (4) ◽  
pp. 182-189
Author(s):  
Haung-Tsung Kuo ◽  
Chieh-Ho Chen ◽  
Chien-Yu Lin ◽  
Ya-Sian Chang ◽  
Jan-Gowth Chang
Keyword(s):  
Microarray Analysis ◽  
Copy Number ◽  
Neurodevelopmental Disorder ◽  
Copy Number Variations ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Taiwanese Population ◽  
Gene Deletions ◽  
Wide Mouth ◽  
Break Points

Williams-Beuren Syndrome (WBS; OMIM #194050) is a rare neurodevelopmental disorder that results from a deletion at 7q11.23 spanning 25-27 genes. We performed chromosomal microarray analysis (CMA) in 9 Taiwanese patients with WBS to confirm the diagnosis. These samples had already been examined by FISH and diagnosed as WBS. Pathogenic copy number variations (CNVs) were identified in all patients, including 24 genes (spanning from FKBP6 to GTF2I) with typical 7q11.23 microdeletion. A deletion in TRIM50 was common in Taiwanese patients with WBS (8/9). Furthermore, 1 patient had 2 additional gene deletions in NCF1 and GTF2IRD2. We also found 4 patients with duplications of 4p16.1, 16p13.11, 10q26.3, and 21q22.3. All 9 WBS patients exhibited distinctive facial dysmorphisms, including a wide mouth, thick prominent lips, short nose with anteverted nares, and periorbital puffiness. However, cardiac defects were not frequent in our patients (3/9). In conclusion, we detected CNVs associated with WBS in a Taiwanese population using CMA. Although CMA is expensive and labor-intensive, it is useful for identifying typical/atypical CNVs, delineating distal break points, and detecting other CNVs.

Abstract 751: Lung mitochondrial DNA copy number variations: E-cig users, smokers, and never-smokers

2021 ◽  
Author(s):  
Kellie M. Mori ◽  
Joseph P. McElroy ◽  
Daniel Y. Weng ◽  
Sangwoon Chung ◽  
Sarah A. Reisinger ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Copy Number ◽  
Copy Number Variations ◽  
Dna Copy Number ◽  
Dna Copy Number Variations ◽  
Mitochondrial Dna Copy Number ◽  
Never Smokers

Progress in finding pathogenic DNA copy number variations in dyslipidemia

2019 ◽  
Vol 30 (2) ◽  
pp. 63-70 ◽  
Author(s):  
Michael A. Iacocca ◽  
Jacqueline S. Dron ◽  
Robert A. Hegele
Keyword(s):  
Copy Number ◽  
Copy Number Variations ◽  
Dna Copy Number ◽  
Dna Copy Number Variations

P12: Detecting single DNA copy number variations in complex genomes using one nanogram of starting DNA and BAC-array CGH

2005 ◽  
Vol 48 (4) ◽  
pp. 459
Author(s):  
Marine Guillaud-Bataille ◽  
Alexander Valent ◽  
Pascal Soularue ◽  
Christine Perot ◽  
Maria del mar Inda ◽  
...  
Keyword(s):  
Copy Number ◽  
Array Cgh ◽  
Copy Number Variations ◽  
Dna Copy Number ◽  
Dna Copy Number Variations
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