Synonym: microdeletion syndrome

A recognizable phenotype caused by a chromosome deletion that spans one or more genes and may be too small to be detected using conventional cytogenetic methods; the deletion is typically detected by chromosomal microarray (CMA). Depending on the size of the deletion, other techniques including FISH and quantitative PCR can sometimes be employed to identify the deletion.

Related terms: chromosomal microarray (CMA); chromosome; contiguous gene deletion syndrome; FISH; quantitative PCR