Usefulness of the SNP microarray technology to identify rare mutations in the case of perinatal death

2015 ◽  
Vol 4 (1) ◽  
Author(s):  
Louise K. Hoeffding ◽  
Kirsten F. Kock ◽  
Iben G. Johnsen ◽  
Thomas Hansen ◽  
Thomas Werge
Keyword(s):  
Copy Number ◽  
Perinatal Death ◽  
Clinical Phenotype ◽  
Copy Number Variants ◽  
Premature Death ◽  
Microarray Technology ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Snp Microarray ◽  
Rare Mutations

AbstractThe single nucleotide polymorphism (SNP) microarray technology has emerged as a powerful tool to screen the whole genome for sub-microscopic duplications and deletions that are not detectable by traditional cytogenetic analysis.We report a case of a female twin born at 27Three copy number variants (CNVs) were identified by the SNP microarray analysis. The most interesting CNV in relation to the clinical phenotype (pulmonary immaturity) was a disruption in the geneIt is unknown from this case report whether the CNV at 1p31.1 contributes to a genetic predisposition that is related to maturation of the lungs or the perinatal death of one of the twins. However, disruptions in the biosynthesis of gangliosides have been previously associated with premature death in mice.

scholarly journals PATH-10. COPY NUMBER (CN)/SINGLE NUCLEOTIDE POLYMORPHISM (SNP) MICROARRAY ANALYSIS OF THE EGFR LOCUS IN GLIOSARCOMA

2018 ◽  
Vol 20 (suppl_6) ◽  
pp. vi160-vi160
Author(s):  
Lindsey Lowder ◽  
Ashley Woods ◽  
Stewart Neill ◽  
Jennifer Hauenstein ◽  
Saxe Debra ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Microarray Analysis ◽  
Copy Number ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Snp Microarray

scholarly journals Cytogenetic and molecular analysis of distal 4q duplication with distinctive phenotype using single-nucleotide polymorphism array

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Jianlong Zhuang ◽  
Na Zhang ◽  
Wanyu Fu ◽  
Jianfeng Yao ◽  
Yanqing Li ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Clinical Phenotype ◽  
Single Nucleotide Polymorphism Array ◽  
Copy Number Variants ◽  
Snp Array ◽  
Partial Trisomy ◽  
Nucleotide Polymorphism ◽  
Balanced Translocation ◽  
Single Nucleotide ◽  
Mild Clinical Phenotype

Abstract Aims There is little knowledge about partial trisomy 4q and the genotype–phenotype correlation. In this study, we presented the detail of two Chinese families with partial distal 4q duplication in an attempt to clarify the correlation between the genotype and the phenotype. Methods Two pedigrees with distal 4q duplication were enrolled in this study. Karyotype analysis and single-nucleotide polymorphism (SNP) array detection were performed for prenatal diagnosis. Fluorescence in situ hybridization analysis. (FISH) was conducted to verify the copy number variants. Results Two families with partial trisomy 4q were identified. The fetus in pedigree 1 exhibited multiple ultrasound anomalies including intrauterine growth restriction and an atrioventricular septal defect who had a duplication of 4q28.3-qter associate with 6p25.2-p25.3 deletion, which resulted from balanced translocation carried by his father t(4;6)(q28.3;p25.2). The fetus in pedigree 2 had a distal 4q28.3-qter duplication combined with monosomy of Xp21.3-p22.3, and the karyotype was described as 46,X,der(X)t(X;4)(p21.3;q28.3)mat, which originally inherited from the pregnant woman who exhibited a mild clinical phenotype limited to short stature. Conclusions In our study, we for the first time identified the partial trisomy 4q associate with 6p or Xp deletion. In addition, our finding further strengthens that mild clinical phenotype in 4q duplication case may be due to the spreading of X inactivation to the autosomal in derivation of chromosome X.

scholarly journals Genomic and genetic variability of six chicken populations using single nucleotide polymorphism and copy number variants as markers

animal ◽  
2017 ◽  
Vol 11 (5) ◽  
pp. 737-745 ◽  
Author(s):  
M.G. Strillacci ◽  
M.C. Cozzi ◽  
E. Gorla ◽  
F. Mosca ◽  
F. Schiavini ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Genetic Variability ◽  
Copy Number ◽  
Copy Number Variants ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide

scholarly journals Copy-Number Variations Measured by Single-Nucleotide–Polymorphism Oligonucleotide Arrays in Patients with Mental Retardation

2007 ◽  
Vol 81 (4) ◽  
pp. 768-779 ◽  
Author(s):  
Janine Wagenstaller ◽  
Stephanie Spranger ◽  
Bettina Lorenz-Depiereux ◽  
Bernd Kazmierczak ◽  
Michaela Nathrath ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Mental Retardation ◽  
Copy Number ◽  
Copy Number Variations ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Oligonucleotide Arrays

scholarly journals An integrative approach to investigate the respective roles of single-nucleotide variants and copy-number variants in Attention-Deficit/Hyperactivity Disorder

2016 ◽  
Vol 6 (1) ◽  
Author(s):  
Leandro de Araújo Lima ◽  
Ana Cecília Feio-dos-Santos ◽  
Sintia Iole Belangero ◽  
Ary Gadelha ◽  
Rodrigo Affonseca Bressan ◽  
...  
Keyword(s):  
Attention Deficit Hyperactivity Disorder ◽  
Attention Deficit ◽  
Copy Number ◽  
De Novo ◽  
Copy Number Variants ◽  
Integrative Approach ◽  
Single Nucleotide Variants ◽  
Single Nucleotide ◽  
Hyperactivity Disorder ◽  
New Genes

Abstract Many studies have attempted to investigate the genetic susceptibility of Attention-Deficit/Hyperactivity Disorder (ADHD), but without much success. The present study aimed to analyze both single-nucleotide and copy-number variants contributing to the genetic architecture of ADHD. We generated exome data from 30 Brazilian trios with sporadic ADHD. We also analyzed a Brazilian sample of 503 children/adolescent controls from a High Risk Cohort Study for the Development of Childhood Psychiatric Disorders, and also previously published results of five CNV studies and one GWAS meta-analysis of ADHD involving children/adolescents. The results from the Brazilian trios showed that cases with de novo SNVs tend not to have de novo CNVs and vice-versa. Although the sample size is small, we could also see that various comorbidities are more frequent in cases with only inherited variants. Moreover, using only genes expressed in brain, we constructed two “in silico” protein-protein interaction networks, one with genes from any analysis, and other with genes with hits in two analyses. Topological and functional analyses of genes in this network uncovered genes related to synapse, cell adhesion, glutamatergic and serotoninergic pathways, both confirming findings of previous studies and capturing new genes and genetic variants in these pathways.

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