Microarray comparative genomic hybridization and cytogenetic characterization of tissue‐specific mosaicism in three patients

Abstract excerpt

The presence of more than one cell line in an individual may often be missed by classical cytogenetic analysis due to a low percentage of affected cells or analysis of cells from an unaffected or less affected germ layer. Array comparative genomic hybridization (aCGH) from whole blood or tissue is an important adjunct to standard karyotyping due to its ability to detect genomic imbalances that are below the...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Genetic Syndromes and Imprinting
• Share to Genomic variations and chromosomal abnormalities
• Share to Prenatal Screening and Diagnostics