Table 1 Characteristics of common microdeletion syndromes
From: Chromosomal phenotypes and submicroscopic abnormalities
Syndrome | Chromosome location | Deletion incidence | Parental origin | Deletion size (Mb) | Gene |
|---|---|---|---|---|---|
Sotos | 5q35 | ND | Paternal (90%) | 2.2 | NSD1 (10%) |
Williams | 7q11.23 | 1/20,000-1/50,000 | Equal | 1.6 | CGS |
8p deletion | 8p23.1 | ND | Maternal | 5 | CGS |
Prader-Willi | 15q11.2-13 | 1/20,000 | Paternal | 3.5 | CGS |
Angelman | 15q1.2-13 | 1/20,000 | Maternal | 3.5 | UBE3A (10-15%) |
Smith-Magenis | 17p11.2 | 1/25,000 | Equal | 4 | RAI1 (ND) |
Neurofibromatosis 1 | 17q11.2 | 1/40,000-1/80,000 | Maternal | 1.5 | NF1 (90-95%) |
Velocardiofacial | 22q11.2 | 1/4,000 | Equal | 3 (1.5) | CGS |