Table 1. List of diseases diagnosed by the targeted made oligonucelotide array design.
Syndrome | Number of Probes | Chromosomal location |
---|---|---|
22q11 microdeletion/microduplication syndrome | 411 | 22q11.2 |
X-Linked ichthyosis | 106 | Xp22.3 |
cri du chat syndrome | 946 | 5p15-5p |
Angelman syndrome | 470 | 15q11-13 |
Miller-Dieker syndrome | 302 | 17p13.3 |
Prader-Willi syndrome | 470 | 15q11-13 |
Smith-Magenis syndrome | 327 | 17p11.2 |
Williams syndrome | 199 | 7q11.23 |
Wolf-Hirschhorn syndrome | 229 | 4p16.3 |
Kallman syndrome | 105 | 8p11.2-p12 |
Chondrodysplasia Punctata Type 1 | 200 | Xp22.3 |