ArticleAmerican journal of human genetics2003
Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH.
Article in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed.
- Biomedical application of materials for external auditory canal: History, challenges, and clinical prospects.Bioactive materials · 2024Review
- Severe Unilateral Microtia with Aural Atresia, Hair White Patch, Stereotypes in a Young Boy with De novo 16p13.11 Deletion: Reasons for a New Genotype-Phenotype Correlation.Global medical genetics · 2023Article
- Inconsistency of Karyotyping and Array Comparative Genomic Hybridization (aCGH) in a Mosaic Turner Syndrome Case.Global medical genetics · 2020Article
- NeuroArray, A Custom CGH Microarray to Decipher Copy Number Variants in Alzheimer's Disease.Current genomics · 2018Article
- Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders.Molecular syndromology · 2017Article
- Genetic Advances in the Understanding of Microtia.Journal of pediatric genetics · 2016Review
- A Korean case of de novo 18q deletion syndrome with a large atrial septal defect and cyanosis.Annals of laboratory medicine · 2015Article
- Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans.American journal of human genetics · 2011Article
- Congenital auditory meatal atresia: a numerical review.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2009Review
- Causation of permanent unilateral and mild bilateral hearing loss in children.Trends in amplification · 2008Review
- From microscopes to microarrays: dissecting recurrent chromosomal rearrangements.Nature reviews. Genetics · 2007Review
- Application of array-based comparative genomic hybridization to clinical diagnostics.The Journal of molecular diagnostics : JMD · 2006Review
- Application of multicolor banding for identification of complex chromosome 18 rearrangements.The Journal of molecular diagnostics : JMD · 2006Article
- Article
- A multiplex PCR predictor for aCGH success of FFPE samples.British journal of cancer · 2006Article
- Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3.Journal of medical genetics · 2004Article
- Small marker chromosomes in two patients with segmental aneusomy for proximal 17p.Human genetics · 2004Article
- Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features.Journal of medical genetics · 2004Article
- Identification and characterisation of constitutional chromosome abnormalities using arrays of bacterial artificial chromosomes.British journal of cancer · 2004Article
- Chromosomal phenotypes and submicroscopic abnormalities.Human genomics · 2004Review
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16 authors.
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No grant is acknowledged in the PubMed record.
Abstract
Deletions of the long arm of chromosome 18 occur in approximately 1 in 10,000 live births. Congenital aural atresia (CAA), or narrow external auditory canals, occurs in approximately 66% of all patients who have a terminal deletion 18q. The present report describes a series of 20 patients with CAA, of whom 18 had microscopically visible 18q deletions. The extent and nature of the chromosome-18 deletions were studied in detail by array-based comparative genomic hybridization (arrayCGH). High-resolution chromosome-18 profiles were obtained for all patients, and a critical region of 5 Mb that was deleted in all patients with CAA could be defined on 18q22.3-18q23. Therefore, this region can be considered as a candidate region for aural atresia. The array-based high-resolution copy-number screening enabled a refined cytogenetic diagnosis in 12 patients. Our approach appeared to be applicable to the detection of genetic mosaicisms and, in particular, to a detailed delineation of ring chromosomes. This study clearly demonstrates the power of the arrayCGH technology in high-resolution molecular karyotyping. Deletion and amplification mapping can now be performed at the submicroscopic level and will allow high-throughput definition of genomic regions harboring disease genes.
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