[PDF] Top 20 Clinical Utility of Chromosomal Microarray Analysis
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Clinical Utility of Chromosomal Microarray Analysis
... multiple clinical features resulting from altered doses of multiple ...by microarray analysis was the case of a patient who was referred for micro- array testing because of developmental delay, ... See full document
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Clinical utility of chromosomal microarray analysis in the diagnosis and management of monosomy 7 mosaicism
... unrelated clinical features, the diagnosis of myelodysplasia and subsequent bone mar- row transplant would likely have been significantly de- layed, resulting in a worse prognosis for our ... See full document
5
A prenatal missed diagnosed case of submicroscopic chromosomal abnormalities by karyotyping: the clinical utility of array-based CGH in prenatal diagnostics
... routine analysis of fetal chromosomes [24]. Array-based CGH analysis possesses a number of sig- nificant advantages over conventional cytogenetic and other molecular cytogenetic techniques, and can en- ... See full document
7
Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions
... These clinical records were collected, categorized and accessed elec- tronically in this ...with clinical record indicating negative for the specific condition is counted as “without select ...statistical ... See full document
8
Phenotypic Analysis of Korean Patients with Abnormal Chromosomal Microarray in Patients with Unexplained Developmental Delay/Intellectual Disability
... collected clinical and CMA data of the patients who visited Konyang University Hospital for evaluation of unexplained DD/ID in a period of one ...recognizable chromosomal syndromes or single gene dis- ... See full document
7
Abnormalities in spontaneous abortions detected by G-banding and chromosomal microarray analysis (CMA) at a national reference laboratory
... 268 clinical cases were analyzed by Oligo- SNP CMA (oligonucleotide, single nucleotide polymorph- ism, Affymetrix™ CytoScan HD, Affymetrix™, ...a microarray containing over ... See full document
6
Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity
... Only patients who tested negative for PWS (methylation analysis of SNURF-SNRPN exon 1 by our laboratory) were included in our study whether or not they had a positive clinical score for PWS. This test ... See full document
18
Case Report A fetus with Kabuki syndrome 2 detected by chromosomal microarray analysis
... on clinical manifestations and genetic ...using chromosomal microarray analysis ...no chromosomal abnormality was identified in the ... See full document
5
Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 42,910 single pregnancies with different clinical features
... [25]. Chromosomal microarray analysis (CMA) is a powerful tool for the detection of invisible small chromosomal deletions or duplications and was recommended as a first-tier diagnostic tool ... See full document
8
High resolution chromosomal microarray analysis in paediatric obsessive-compulsive disorder
... The Children’s Yale Brown Obsessive Compulsive Scale (CY-BOCS) [32] was used in all patients to assess severity and characteristics of OCD symptomatology. A summary score above 16 points was determined to be the cut-off ... See full document
11
Application of chromosomal microarray to investigate genetic causes of isolated fetal growth restriction
... Frequently, FGR is a major and only manifestation in the prenatal diagnosis of some micro-duplication/dele- tion syndromes, and intellect disability or delayed devel- opment was solely clinical presentation after ... See full document
6
Genetic anomalies in fetuses with tetralogy of Fallot by using high-definition chromosomal microarray analysis
... analysis was performed with the Affymetrix Chromosome Analysis Suite (ChAS) software. The interpretation of copy number gains or losses was performed as follows: First, the detected CNVs were compared with ... See full document
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Importance and usage of chromosomal microarray analysis in diagnosing intellectual disability, global developmental delay, and autism; and discovering new loci for these disorders
... Between May 2016 and April 2017, 124 patients were examined at the department of genetics for GDD/ID and CA. There were 73 males and 51 females. The age of the patients ranged from 15 days to 17 years. The Denver ... See full document
9
Genomic Imbalances in Neonates With Birth Defects: High Detection Rates by Using Chromosomal Microarray Analysis
... somal microarray analysis for various clinical indications were ...“possible chromosomal abnormality” ⫾ “others” (other clinical indications), ...had chromosomal aneuploidies, ... See full document
11
Design and validation of an oligonucleotide microarray for the detection of genomic rearrangements associated with common hereditary cancer syndromes
... the clinical diagnosis of chromosomal abnormalities at an unprecedented reso- ...array analysis has been successfully used to detect changes in DNA copy number in genetic disorders associated with ... See full document
7
Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder—implications of a copy number variation involving DPP10
... or clinical psychologist using the Diagnostic and Statistical Manual of Mental Disorders, fourth edition, text revi- sion (DSM IV-TR) or fifth edition ...our analysis focused on only 258 patients of self- ... See full document
12
Intragenic deletion of RBFOX1 associated with neurodevelopmental/neuropsychiatric disorders and possibly other clinical presentations
... In this report, we evaluated the clinical significances of the intragenic deletions/duplication of RBFOX1 in 12 out of 14 patients who carry the genomic imbalances. Fourteen copy number variants (CNV) involving ... See full document
5
The accuracy of chromosomal microarray testing for identification of embryonic mosaicism in human blastocysts
... For FISH studies, blastocysts were dissociated by first removing the zona pellucida with 1000 μs bursts from a laser (Hamilton Thorne Biosciences, USA) or with treat- ment with 0.1% pronase. Embryos were then placed in ... See full document
9
Genetic analysis of products of conception using a HLPA/SNP-array strategy
... CMA: Chromosomal microarray analysis; CNVs: Copy number variations; FISH: Fluorescence in situ hybridization; HLPA: High-throughput ligation- dependent probe amplification; LOH: Loss of ... See full document
7
Comprehensive analysis of clinical utility of three-dimensional ultrasound for benign and malignant breast masses
... typically smaller and denser than those of American and European women. Used together, the combination of 3-D ultrasound and a molybdenum target can be used to signifi- cantly improve patient diagnosis in the ... See full document
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