Journal article
Rearrangements of chromosome 18 illustrate the utility of array-based comparative genomic hybridization
Cytogenetic and genome research, Vol.114(3-4), pp.379-383
08/2006
Handle:
https://hdl.handle.net/2376/106269
PMID: 16954681
Abstract
Comprehensive and reliable testing is an important component of counseling and management in clinical genetics. Identification of imbalances of chromosomal segments has uncovered new genes and has established phenotype/genotype correlations for many syndromes with previously unidentified causes. Conventional cytogenetics has proven to be useful for the detection of large aberrations, but its resolution limits the identification of submicroscopic alterations. Comparative genomic hybridization (CGH) on a microarray-based platform has the potential to detect and characterize both microscopic and submicroscopic chromosomal abnormalities. Nine cases of aberrations involving chromosome 18 are used to illustrate the use and clinical potential of array CGH.
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Details
- Title
- Rearrangements of chromosome 18 illustrate the utility of array-based comparative genomic hybridization
- Creators
- C.D KashorkA TheisenB.A BejjaniL.G Shaffer
- Publication Details
- Cytogenetic and genome research, Vol.114(3-4), pp.379-383
- Academic Unit
- Center for Reproductive Biology
- Publisher
- Basel, Switzerland
- Number of pages
- 5
- Identifiers
- 99900546519501842
- Language
- English
- Resource Type
- Journal article