Engelsk titel: Diagnosis of cryptic chromosome aberrations
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Författare:
Ness GO
;
Houge G
Email: gro.ness@helse-bergen.no
Språk: Nor
Antal referenser: 30
Dokumenttyp:
Översikt
UI-nummer: 03091396
Sammanfattning
INTERPRETATION : Though the sensitivity of comparative genomic hybridisation is still insufficient for finding a deletion in most of the well-known microdeletion syndromes, the diagnostic yield of genomic imbalances is better than for all other laboratory investigations except routine G-banding.
RESULTS : Using comparative genomic hybridisation with high-resolution analysis, we were able to detect a chromosome aberration in 10 % of patients found to have normal karyotypes by standard chromosome analysis.
MATERIALS AND METHODS : We present the current molecular cytogenetic methods for detection of cryptic chromosome aberrations, with special emphasis on comparative genomic hybridisation (CGH), a DNA-based screening method.
BACKGROUND : Cryptic chromosome aberrations, i.e. those that are not observed by routine chromosome analysis (G-banding), can cause a plethora of developmental abnormalities, usually at least a combination of various dysmorphic signs and mental retardation.