Diagnosis of microdeletion syndromes by fluorescence in situ hybridization (FISH).
This unit opens with an overview of microdeletions and methods for their detection. It goes on to describe a vast array of autosomal microdeletion syndromes, X-linked microdeletion syndromes, and microduplication syndromes. The final portion of the unit offers guidance for detecting such syndromes with Fluorescence in situ Hybridization (FISH).
Shaffer
L G
LG
Baylor College of Medicine, Houston, Texas, USA.
D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000235:genetics; D005826:Genetics, Medical; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D008297:Male; D013577:Syndrome