Microdeletion syndrome

A microdeletion syndrome is a syndrome caused by a chromosomal deletion smaller than 5 million base pairs (5 Mb) spanning several genes that is too small to be detected by conventional cytogenetic methods or high resolution karyotyping (2–5 Mb).

[1][2] Detection is done by fluorescence in situ hybridization (FISH).

Larger chromosomal deletion syndromes are detectable using karyotyping techniques.