Copy number variations on chromosome 13
Investigation of copy number variations on chromosome 21 detected by comparative genomic hybridization (CGH) microarray in patients with congenital anomalies
... Methods: A total of 2768 pediatric patients sample collected at the Genetics Laboratory at Oklahoma University Health Science Center were screened using CGH Microarray for CNVs on chromosome 21. Results: We report ...
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Analysis of chromosome 22q11 copy number variations by multiplex ligation-dependent probe amplification for prenatal diagnosis of congenital heart defect
... for detail diagnosis. In total, 225 fetuses presenting with CHD were enrolled in the study. The distribution of different clinical manifestations was shown in Table 1. The CHD cases included in the study were: ...
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Evaluation of SHOX copy number variations in patients with Müllerian aplasia
... The cohort included 101 Finnish patients, of whom two are siblings. The clinical phenotype of all patients includes congenital loss of the uterus and the upper two- thirds of the vagina, while the status of the oviducts ...
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Chromosomal abnormalities and copy number variations in fetal ventricular septal defects
... We observed five cases of VOUS. The result is consistent with the frequency reported in other studies using similar CMA [6, 18]. One case had a 1.0 Mb duplication in chromosome 11p15.1p14.3 that involved an OMIM ...
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Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula
... significance threshold was set at 5.0E-7 with a minimum of 5 probes per segment and a maximum probe spacing of 1,000 kb. The log2R-ratio thresholds were set at +0.18 (single copy gain), -0.18 (single copy ...
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Copy number variations in DISC1 and DISC1 - interacting partners in major mental illness
... NDE1 Copy Number Variants CNVs were detected in NDE1 in both the Scottish and Swedish sample sets ( table 2 ...single copy gain of the short arm of chromosome 16 at band ...
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VACTERL association etiology: The impact of de novo and rare copy number variations
... However, some changes are recurrent and have been identified in more than one VACTERL patient. The first is on chromosome 17 where 2 overlapping deletions have been reported affecting chromosome band 17q23 ...
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Integration of genomic copy number variations and chemotherapy-response biomarkers in pediatric sarcoma
... Results: Genes associated with survival and/recurrence of these sarcomas with statistical significance were found on long arm of chromosome 8 and smaller aberrations were also identified at chromosomes 1q, 12q and ...
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An initial comparative map of copy number variations in the goat (Capra hircus) genome
... experiments. Overlapping between goat and cattle CNVRs was highly significant (P < 0.0001) suggesting that several chromosome regions might contain recurrent interspecies CNVRs. Genes with environmental functions ...
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Copy number variations of the ATP binding cassette transporter ABCC6 gene and its pseudogenes
... on chromosome 16 between its two pseudogenes (ABCC6P1 and ...determine copy number variations of ABCC6, ABCC6P1 and ABCC6P2 in different ...
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Non-invasive prenatal testing reveals copy number variations related to pregnancy complications
... maternal chromosome copy number variations (CNVs) were classi- fied with our modified Stouffer’s Z-score method as de- scribed previously ...and 13 were also present. Here, each ...
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Copy number variations (CNVs) in the assessment of stroke susceptibility in patients with sickle cell anemia
... Moreover, ADMIXTURE analysis provides information on the variability of each ancestral component, since we were able to compare medians and quantiles among populations. We found that Brazilians bear greater heterogeneity ...
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Copy number variations in Friesian horses and genetic risk factors for insect bite hypersensitivity
... using real-time PCR for quantification of GSTM1 and GSTT1 gene copy numbers. Hum Mutat. 2004;24:208 – 14. 58. Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, Martinet D, Shen Y, Valsesia A, ...
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Original Article Non-invasive prenatal DNA testing for genomic copy number variations
... other chromosome abnormalities in ...large number of cases screened in this study, we can’t further confirm all the negative cases, which is expected to be improved in the future ...
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Copy number variations and cancer
... on copy number variations (CNVs), an unexpectedly frequent, dynamic and complex form of genetic diversity, and have quickly overturned the idea of a single diploid human ‘reference ...
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Decoding NF1 Intragenic Copy-Number Variations
... Genomic rearrangements can cause both Mendelian and complex disorders. Currently, several major mechanisms causing genomic re- arrangements, such as non-allelic homologous recombination (NAHR), non-homologous end joining ...
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Detection Of Copy Number Variations In Genomic Regions
... Abstract Copy number variation (CNV) is a form of structural variation caused by duplications or deletions of a large DNA segment, which may have a vital impact on human health, causing many neurological ...
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E2F1 germline copy number variations and melanoma susceptibility
... germline copy number variations (CNVs) have been associated with increased susceptibility to different types of cancer, the aim of our study was to assess germline E2F1 CNV in melanoma ...
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Assessing the reproducibility of exome copy number variations predictions
... Results Reproducibility in varying data input Sequencing centers need to be able to select a caller that will make robust predictions of CNVs. Unfortu- nately, most CNV callers are developed and piloted on only a single ...
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Copy number variation in the human Y chromosome in the UK population
... Manual curation of the rawCNVE calls in the 149 indi- viduals with both array-CGH and SNP data identified a set of calls with strong evidence for variation in copy number, and examples of these validated ...
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