FISH performed on metaphase chromosomes.
* FISH performed on metaphase chromosomes and interphase nuclei.
Microdeletion
Syndrome |
Chromosomal
Region |
Diagnostic
Probe |
Control
Probe |
Location
|
| Kallman |
Xp22.3 |
KAL |
|
Xp22.3 |
|
|
|
DXZ1 |
Xp11.1-q11.1 |
|
|
|
|
|
| Steroid Sulfatase |
Xp22.3 |
STS |
|
Xp22.3 |
|
|
|
DXZ1 |
Xp11.1-q11.1 |
|
|
|
|
|
| XIST |
Xq13 |
XIST |
DXZ1 |
Xp11.1-q11.1 |
|
|
|
|
|
| SRY |
Yp11.3 |
SRY |
|
Yp11.3 |
|
|
|
DXZ1 |
Xp11.1-q11.1 |
|
|
|
|
|
| 1p Deletion |
1p36.3 |
1ptel |
|
1p36 |
|
|
p58(CDC2L1) |
LSI 1q25 |
1q25 |
|
|
|
|
|
|
|
|
|
|
| Wolf-Hirschhorn |
4p16.3 |
WHS |
|
4p16.3 |
|
|
|
CEP 4 |
4p11.1-q11.1 |
|
|
|
|
|
| Cri-du-Chat |
5p15.2 |
D5S721, D5S23 |
|
5p15.2 |
|
|
|
EGR-1 |
5q31 |
|
|
|
|
|
| Sotos |
5q35 |
NSD1 |
|
5q35 |
|
|
|
D5S23/D5S721 |
5p15.2 |
|
|
|
|
|
| William's syndrome |
7q11.23 |
ELN |
|
7q11.23 |
|
|
|
D7S486/D7S522 |
7q31 |
|
|
|
|
|
| DiGeorge / VCFSII |
10p13-14 |
|
|
10p14 |
|
|
|
10cen |
10p11.1-q11.1 |
|
|
|
|
|
| Prader-Willi/Angelman |
15q11-q13 |
SNRPN |
|
15q11-q13 |
|
|
D15S10 |
|
15q11-q13 |
|
|
|
PML |
15q22 |
|
|
|
D15Z1 |
15p11.2 |
|
|
|
|
|
| Rubinstein-Taybi |
16p13.3 |
RT166/RT191 |
|
16p13.3 |
|
|
RT102/RT4 |
|
16p13.3 |
|
|
|
D16Z3 |
16p11.1-q11.1 |
|
|
|
|
|
| Retinoblastoma |
13q4 |
RB1 |
|
13q14 |
|
|
|
|
|
| Smith-Magenis |
17p11.2 |
SMS |
|
17p11.2 |
|
|
|
RARA |
17q21.1 |
|
|
|
|
|
| Miller-Dieker |
17p13.3 |
LIS1 |
|
17p13.3 |
|
|
|
RARA |
17q21.1 |
|
|
|
|
|
| NF1 |
17q11.2 |
P1-9 |
|
17q11.2 |
| (Neurofibromatosis |
|
|
D17Z1 |
17p11.1-q11.1 |
| Type-1) |
|
|
|
|
|
|
|
|
|
| DiGeorge/VCFS * |
22q11.2 |
TUPLE1 |
|
22q11.2 |
|
|
|
ARSA |
22q13 |
|
|
|
|
|
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