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chromosomal microarray analysis (cma) (Illumina Inc)

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Illumina Inc chromosomal microarray analysis (cma)
Chromosomal Microarray Analysis (Cma), supplied by Illumina Inc, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/chromosome+microarray+analysis/chromosomal+microarray+analysis/pm39595626-56-9-18
Average 90 stars, based on 1 article reviews

chromosomal microarray analysis (cma) - by Bioz Stars, 2026-09

90/100 stars

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Microarray:

Article Title: Neonatal Marfan syndrome: a case report of a novel fibrillin 1 mutation, with genotype-phenotype correlation and brief review of the literature
Article Snippet: .. Fig. 2 Cardiac involvement in our patient: A ) severe mitral insufficiency from a 4-chamber view; B ) aortic valve insufficiency from long axis view Blood karyotype and Chromosomal Microarray Analysis using platform Illumina ® CytoSNP 850k showed no pathogenic results. .. After these negative results, at 2 months of life, clinical exome analysis of trios was performed on DNA extracted from circulating leukocytes using kit Twist Custom Panel (Twist Bioscience) on the Illumina sequencing platform (NovaSeq6000, San Diego, CA).

Article Title: A Case with Autism Spectrum Disorder and Concomitant Arginase Deficiency
Article Snippet: .. In addition, chromosomal microarray analysis was performed using Illumina Infinium Asian Screening Array-24 v1.0 kit. ..

Article Title: Chromosome 1p36 Deletion Syndrome: Four Patients with Variable Presentations
Article Snippet: .. In one patient, chromosomal microarray (CMA) was done following initial NGS testing using Illumina single nucleotide polymorphism array. .. NGS was performed on Illumina platform covering for possible target genes using a capture system as per the manufacturer's standard protocols.

Article Title: Biallelic NEXN variants and fetal onset dilated cardiomyopathy: two independent case reports and revision of literature
Article Snippet: .. The Chromosomal Microarray Analysis was performed using the Infinium CytoSNP-850 K BeadChip (SNP-array, Illumina, San Diego, CA, USA), and identified a heterozygous maternal duplication arr[hg19] 12q21.33 (89,683,180 − 89,935,072) x3 of about 251 kb, including (Online Mendelian Inheritance in Man) the disease causing genes DUSP6 (hypogonadotropic hypogonadism with or without anosmia) and POC1B (Cone-rod dystrophy), and classified as of uncertain significance. ..

Article Title: Basic Science and Pathogenesis.
Article Snippet: .. Illumina SNP chromosomal microarray confirmed a 21q duplication also including the CYYR-1 and CYYR1-AS1 genes, with the partial APP duplication defined as “uncertain” per ACMG guidelines. ..

Article Title: APP Gene Duplication Unraveled: A Unique Case of Atypical Dementia with Prominent Psychiatric Concerns in a Hispanic Male
Article Snippet: .. Illumina SNP chromosomal microarray confirmed a 21q duplication also including the CYYR‐1 and CYYR1‐AS1 genes, with the partial APP duplication defined as “uncertain” per ACMG guidelines. ..

Article Title: A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review.
Article Snippet: .. According to standard procedures, Chromosomal Microarray Analysis (CMA) was performed on DNA extracted from peripheral blood using Infinium CytoSNP-850 K BeadChip (Illumina, San Diego, California) at an average resolution of 100 kb. .. Array scanning data were generated by the NextSeq 550 system (Illumina) and results were analyzed by Bluefuse Multi software.

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chromosomal microarray analysis (cma) (Illumina Inc)

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