|
Microdeletion (or duplication) Syndromes |
This project is aimed at isolating probes specific
for microdeletion syndromes, such HNPP, Williams s., etc.
Collaborations to validate the probes are welcomed!
| Syndrome |
Mapping
|
Probe(s)
|
Reference |
| Wolff-Hirschhorn syndrome |
4p
|
||
| Cri-du-chat syndrome |
5p
|
||
| Williams-Beuren syndrome |
7q11.23
|
Osborne et al., 2001 | |
| ATR-16 syndrome |
16p13.3
|
Pfeiffer et al., 2000 | |
| CMT-1A |
17p11.2
|
Murakami et al., 1996 | |
| HNPP | Chance et al., 1993 | ||
| APP (Alzheimer) |
21q21.3
|
Rovelet-Lecrux et al., 2006 | |
| Di George syndrome |
22q11.2
|