Table 2.

Examples of Pericentromeric Instability in the Human Genome

InstabilityCytogenetic intervalEvent (Mb)
DiGeorge syndrome22q11.2microdeletion (3)
Velocardiofacial syndrome22q11.2microdeletion (3)
Cat-eye syndromeproximal 22q11SMC duplication
Williams syndrome7q11.23microdeletion (1.5)
Prader–Willi syndrome15q11-15q13microdeletion (4)
Angelman syndrome15q11-15q13microdeletion (4)
Inverted 15 (dup)15q11-15q14SMC duplication
15q duplication15q11 proximalinterstitial duplication
Charcot–Marie Tooth17p11.2microdeletion (1.5)
HNPP17p11.2interstitial duplication (1.5)
Smith–Magenis syndrome17p11.2microdeletion (5)
16p duplication16p11-13interstitial duplication

[i] The most common cytogenetic event associated with each instability is indicated.