Bi W, Borgan C, Pursley AN, Hixson P, Shaw CA, Bacino CA, et al. Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today’s genomic array era? Ge
Breman A,Patel A.Preparation of chorionic villus samples for metaphase chromosome analysis and chromosomal microarray analysis[A]∥Bodamer OA,Dajnoki A.Current Protocols in Human Genetics[M].London:John Wiley & Sons,Inc,2012 :Unit 8.3.Pag1-8.3.Pag9....
In addition, FISH analysis is often less expensive and faster than additional microarray studies when determining the inheritance pattern of a microarray abnormality. This can lead to a more rapid clinical assessment of the patient, given the possible pathogenicity of a de novo variant versus a ...
ACMG Standards and Guidelines © American College of Medical Genetics and Genomics American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for chromosome abnormalities in neoplastic disorders Linda D. Cooley, MD, MBA1, Matthew Lebo, PhD2, Marilyn M. ...
Clinical managementChromosome microarray analysis(CMA) is a cost-effective molecular cytogenetic technique that has been used as a first-line diagnostic test in neurodevelopmental disorders in the USA since 2011. The impact of CMA results on clinical practice in China is not yet well studied, so ...
Here, we first computed pairwise nucleotide diversity (π)29 of autosomes and X chromosome among the six dog populations using custom Perl scripts (non-overlapped 100 k window-size), then principal component analysis (PCA) and population structure estimations were conducted with EIGENSOFT (...
Chromosomal microarray analysis (CMA) of Y-linked CNVs showed that both CNV size and the involvement of spermatogenesis-related genes determine the clinically relevant CNVs in infertile men [31]. Insufficient copy numbers of theRBMYgene can result in asthenozoospermia [32]. CNVs ofDAZ,CDY1, ...
Dosage compensation has been under study for a nearly a century. Examination of chromatin structure, rather than direct assay of gene transcription, dominates the recent dosage-compensation literature. Microarray analysis allows us direct access to the transcript accumulation of all X-chromosome genes. ...
This study aimed to evaluate the feasibility of chromosomal microarray analysis (CMA) in detecting the origin and structure of small supernumerary marker chromosomes (sSMCs) in prenatal and postnatal cases and to clarify sSMC-related genotype-phenotype correlations. Results Thirty-three cases carrying ...
Over the past 60 years, banding cytogenetics, fluorescence in situ hybridization (FISH), chromosome microarray analysis (CMA), and whole-genome sequencing (WGS) has been used to detect an RC and further characterize its genomic alterations. Ring syndrome featuring sever growth retardation and ...