ArticleAmerican journal of human genetics2002
High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization.
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.
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Who cites it
52 citing papers in PubMed, 214 citations in OpenAlex.
- A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication.Frontiers in genetics · 2024Article
- NeuroArray, A Custom CGH Microarray to Decipher Copy Number Variants in Alzheimer's Disease.Current genomics · 2018Article
- Chromosomal imbalance letter: Phenotypic consequences of combined deletion 8pter and duplication 15qter.Molecular cytogenetics · 2013Article
- A comprehensive molecular cytogenetic analysis of chromosome rearrangements in gibbons.Genome research · 2012Article
- Article
- Design, Construction and Validation of Targeted BAC Array-Based CGH Test for Detecting the Most Commons Chromosomal Abnormalities.Genomics insights · 2010Article
- Evolutionary breakpoints in the gibbon suggest association between cytosine methylation and karyotype evolution.PLoS genetics · 2009Article
- Microarray-based comparative genomic hybridization using sex-matched reference DNA provides greater sensitivity for detection of sex chromosome imbalances than array-comparative genomic hybridization with sex-mismatched reference DNA.The Journal of molecular diagnostics : JMD · 2009Article
- Comparative genomic hybridization: microarray design and data interpretation.Methods in molecular biology (Clifton, N.J.) · 2009Article
- De novo complex intra chromosomal rearrangement after ICSI: characterisation by BACs micro array-CGH.Molecular cytogenetics · 2008Article
- Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.American journal of medical genetics. Part A · 2008Article
- Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses.Genetics in medicine : official journal of the American College of Medical Genetics · 2008Article
- From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.Nature reviews. Genetics · 2007Review
- Identification of homozygous deletions of tumor suppressor gene FAT in oral cancer using CGH-array.Oncogene · 2007Article
- High-resolution mapping identifies a commonly amplified 11q13.3 region containing multiple genes flanked by segmental duplications.Human genetics · 2007Article
- Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases.PloS one · 2007Article
- Prenatal diagnosis of genomic disorders and chromosome abnormalities using array-based comparative genomic hybridization.Journal of prenatal medicine · 2007Article
- Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization.Genome biology · 2007Article
- A high-resolution map of synteny disruptions in gibbon and human genomes.PLoS genetics · 2006Article
- Application of array-based comparative genomic hybridization to clinical diagnostics.The Journal of molecular diagnostics : JMD · 2006Review
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Telomeric chromosome rearrangements may cause mental retardation, congenital anomalies, and miscarriages. Automated detection of subtle deletions or duplications involving telomeres is essential for high-throughput diagnosis, but impossible when conventional cytogenetic methods are used. Array-based comparative genomic hybridization (CGH) allows high-resolution screening of copy number abnormalities by hybridizing differentially labeled test and reference genomes to arrays of robotically spotted clones. To assess the applicability of this technique in the diagnosis of (sub)telomeric imbalances, we here describe a blinded study, in which DNA from 20 patients with known cytogenetic abnormalities involving one or more telomeres was hybridized to an array containing a validated set of human-chromosome-specific (sub)telomere probes. Single-copy-number gains and losses were accurately detected on these arrays, and an excellent concordance between the original cytogenetic diagnosis and the array-based CGH diagnosis was obtained by use of a single hybridization. In addition to the previously identified cytogenetic changes, array-based CGH revealed additional telomere rearrangements in 3 of the 20 patients studied. The robustness and simplicity of this array-based telomere copy-number screening make it highly suited for introduction into the clinic as a rapid and sensitive automated diagnostic procedure.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.