chromosomal microarray analysis (Illumina Inc)
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Illumina Inc
chromosomal microarray analysis
Chromosomal Microarray Analysis, supplied by Illumina Inc, used in various techniques. Bioz Stars score: 95/100, based on 83 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/chromosomal+microarray+analysis/Infinium+CytoSNP-850K+v1%2E2+Beadchip+Kit/pm42595145-52-9-13
Average 95 stars, based on 83 article reviews
Chromosomal Microarray Analysis, supplied by Illumina Inc, used in various techniques. Bioz Stars score: 95/100, based on 83 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/chromosomal+microarray+analysis/Infinium+CytoSNP-850K+v1%2E2+Beadchip+Kit/pm42595145-52-9-13
Average 95 stars, based on 83 article reviews
chromosomal microarray analysis - by Bioz Stars,
2026-11
95/100 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 Article Title: Expanding the clinical and molecular spectrum of SETD5, NEDD4L, and TBL1X related disorders: A case report and literature review. Article Snippet: We report a unique clinical case of a male child presenting with a blended phenotype characterized by intellectual disability, seizures, periventricular nodular heterotopia (PVNH), congenital central hypothyroidism, and multiorgan malformations.. Exome sequencing (ES) identified three rare variants: a de novo frameshift variant in SETD5 (g.3–9441593 ;NM_001080517.3:c.812dup; p.(Leu271PhefsTer42)), a de novo missense variant in the WW domain of NEDD4L (NM_015277.6:c.1525C > T; p.(Arg529Cys)), and a maternally inherited nonsense variant in TBL1X (X-9711651-C-T) (NM_005647.4:c.1480C > T; p.(Arg494Ter)).. While the likely pathogenic SETD5 and TBL1X variants are consistent with the neurodevelopmental delay and central hypothyroidism respectively, the NEDD4L variant of uncertain significance (VUS) represents a plausible candidate for the PVNH. Article Title: A Case with Autism Spectrum Disorder and Concomitant Arginase Deficiency Article Snippet: .. In addition, Article Title: Outcome of Children with Marked Changes in Maternal Screening Tests and Normal Karyotype Article Snippet: .. Nevertheless, both had normal Volume 3 • Issue 1 • 1000123 Hereditary Genetics ISSN:2161-1041 Genetics an open access journal karyotypes on prenatal testing and also Article Title: Outcome of Children with Marked Changes in Maternal Screening Tests and Normal Karyotype Article Snippet: .. The additional investigations depended on clinical picture of the child and these included Article Title: Outcome of Children with Marked Changes in Maternal Screening Tests and Normal Karyotype Article Snippet: .. Article Title: Biallelic NEXN variants and fetal onset dilated cardiomyopathy: two independent case reports and revision of literature Article Snippet: .. The Article Title: Genomic Imbalance in Products of Conception Article Snippet: The link between chromosome abnormalities and miscarriages has been appreciated for almost 50 years.. Approximately 65–70% of first-trimester miscarriages have a chromosomal imbalance with aneuploidy, particularly trisomy, accounting for the majority of cases.. As cytogenetic testing in prenatal, pediatric, and adult patients shifts toward microarraybased technologies, the clinical use of chromosomal microarray analysis in studies of products of concepSee related editorial on page 199. Karyotyping:Article Title: Expanding the clinical and molecular spectrum of SETD5, NEDD4L, and TBL1X related disorders: A case report and literature review. Article Snippet: We report a unique clinical case of a male child presenting with a blended phenotype characterized by intellectual disability, seizures, periventricular nodular heterotopia (PVNH), congenital central hypothyroidism, and multiorgan malformations.. Exome sequencing (ES) identified three rare variants: a de novo frameshift variant in SETD5 (g.3–9441593 ;NM_001080517.3:c.812dup; p.(Leu271PhefsTer42)), a de novo missense variant in the WW domain of NEDD4L (NM_015277.6:c.1525C > T; p.(Arg529Cys)), and a maternally inherited nonsense variant in TBL1X (X-9711651-C-T) (NM_005647.4:c.1480C > T; p.(Arg494Ter)).. While the likely pathogenic SETD5 and TBL1X variants are consistent with the neurodevelopmental delay and central hypothyroidism respectively, the NEDD4L variant of uncertain significance (VUS) represents a plausible candidate for the PVNH. Analysis:Article Title: Expanding the clinical and molecular spectrum of SETD5, NEDD4L, and TBL1X related disorders: A case report and literature review. Article Snippet: We report a unique clinical case of a male child presenting with a blended phenotype characterized by intellectual disability, seizures, periventricular nodular heterotopia (PVNH), congenital central hypothyroidism, and multiorgan malformations.. Exome sequencing (ES) identified three rare variants: a de novo frameshift variant in SETD5 (g.3–9441593 ;NM_001080517.3:c.812dup; p.(Leu271PhefsTer42)), a de novo missense variant in the WW domain of NEDD4L (NM_015277.6:c.1525C > T; p.(Arg529Cys)), and a maternally inherited nonsense variant in TBL1X (X-9711651-C-T) (NM_005647.4:c.1480C > T; p.(Arg494Ter)).. While the likely pathogenic SETD5 and TBL1X variants are consistent with the neurodevelopmental delay and central hypothyroidism respectively, the NEDD4L variant of uncertain significance (VUS) represents a plausible candidate for the PVNH. |