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Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation.
- Source :
-
Current opinion in genetics & development [Curr Opin Genet Dev] 2007 Jun; Vol. 17 (3), pp. 182-92. Date of Electronic Publication: 2007 Apr 30. - Publication Year :
- 2007
-
Abstract
- The clinical implementation of array comparative genomic hybridization has revolutionized the diagnosis of patients with syndromic or nonsyndromic mental retardation. Multiple studies of hundreds of patients with idiopathic mental retardation, and normal karyotype and/or subtelomeric testing using genome-wide microarray platforms with approximately 2000 to >30,000 (tiling-path) interrogating BAC/PAC probes have detected chromosome abnormalities in up to 17% of cases. Surprisingly, some of the pathogenic changes are mosaic and not detectable in conventional karyotyping. Commercially available genome-wide microarrays with >300,000 synthesized oligonucleotide probes enable higher resolution and sensitivity and will probably replace the BAC/PAC arrays in clinical laboratories.
- Subjects :
- Child
Congenital Abnormalities diagnosis
Developmental Disabilities diagnosis
Gene Dosage genetics
Genome genetics
Humans
Intellectual Disability diagnosis
Congenital Abnormalities genetics
Developmental Disabilities genetics
Intellectual Disability genetics
Nucleic Acid Hybridization methods
Oligonucleotide Array Sequence Analysis methods
Subjects
Details
- Language :
- English
- ISSN :
- 0959-437X
- Volume :
- 17
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Current opinion in genetics & development
- Publication Type :
- Academic Journal
- Accession number :
- 17467974
- Full Text :
- https://doi.org/10.1016/j.gde.2007.04.009