| Syndromic regions |
incidence |
critical genes |
| 1p36 deletion syndrome |
1/5,000 |
/ |
| 1q41q42 microdeletion syndrome |
unknown |
DISP1 |
| 2p15-16.1 microdeletion syndrome |
unknown |
BCL11A |
| 2q23.1 microdeletion syndrome |
unknown |
MBD5, EPC2 |
| 2q33.1 deletion (Glass syndrome) |
unknown |
STAB2 |
| 2q37 deletion syndrome |
<1/10,000 |
HDAC4 |
| 3pter-p25 deletion syndrome |
unknown |
CNTN4, ITPR1, SRGAP3, VHL |
| 3q29 deletion/duplication syndrome |
unknown |
FBXO45, PAK2, DLG1 |
| 4p16.3 deletion syndrome (Wolf-Hirschhorn) |
1/20,000 - 1/50,000 |
LETM1, WHSC1 |
| 4q21 deletion syndrome |
unknown |
PRKG2, RASGEF1B |
| 5p deletion syndrome (Cri du chat) |
1/20,000 – 1/50,000 |
CTNND2, TERT |
| 5q14.3 deletion syndrome |
unknown |
MEF2C |
| 5q35 deletion syndrome (Sotos) |
1-9/100,000 |
NSD1 |
| 6q13-q14 deletion syndrome |
unkown |
COL12A1 |
| 7q11.23 deletion syndrome (Williams-Beuren) |
1/10,000 |
ELN |
| 8p23.1 deletion syndrome |
unknown |
GATA4 |
| 8q21.11 Microdeletion Syndrome |
unknown |
ZFHX4, PEX2 |
| 8q24.1 deletion syndrome (Langer-Giedion) |
unknown |
TRPS1, EXT1 |
| 9q34.3 deletion syndrome (Kleefstra) |
unknown |
EHMT1 |
| 10p14p13 deletion syndrome (DiGeorge type 2) |
unknown |
GATA3 |
| 11p13 deletion syndrome (WAGR) |
unknown |
PAX6, WT1 |
| 11p11.2 deletion syndrome (Potocki-Shaffer) |
unknown |
ALX4 |
| 11q deletion syndrome (Jacobsen) |
1/100,000 |
/ |
| 14q12 microdeletion syndrome |
unknown |
FOXG1 |
| 15q11q13 deletion syndrome (Prader-Willi) |
1/25,000 |
SNRPN |
| 15q11q13 deletion syndrome (Angelman) |
1/10,000 - 1/20,000 |
UBE3A |
| 15q24 deletion/duplication syndrome |
unknown |
/ |
| 16p deletion syndrome (ATR-16) |
unknown |
HBA1, HBA2 |
| 16q24.1 micorodeletion syndrome |
unknown |
FOXF1, FOXC2 |
| 17p13.3 deletion syndrome (Miller dieker) |
unknown |
PAFAH1B1, YWHAE |
| 17p11.2 deletion syndrome (Smith-Magenis) |
1/25,000 |
RAI1 |
| 17p11.2 duplication syndrome (Potocki Lupski) |
unkown |
RAI1 |
| 17q11.2deletion/duplication syndrome |
unkown |
NF1, SUZ12 |
| 17q21.31 deletion syndrome (Koolen-De Vries) |
1/16,000 |
KANSL1 |
| 17q23.1-q23.2 deletion syndrome |
unknown |
TBX2, TBX4 |
| 19q13.11 deletion syndrome |
unknown |
LSM14A, UBA2 |
| Down Sndrome critical region (21q22.12q22.2) |
1/650 - 1,000 |
/ |
| 22 partial tetrasomy (Cat eye) |
1/50,000 - 1/150,000 |
/ |
| 22q11.2 deletion syndrome (DiGeorge) |
1/2,000 – 1/4,000 |
HIRA, TBX1 |
| 22q11.2 distal deletion syndrome |
unknown |
MAPK1 |
| Xp11.3 deletion syndrome |
unknown |
RP2 |
| Xp11.22 microduplication syndrome |
unknown |
HUWE1 |
| Xq12 deletion/duplication (OPHN1) |
unknown |
OPHN1 |
| Xq22.3 deletion syndrome (AMME COMPLEX) |
unknown |
COL4A5, ACS4 |
| Xq28 duplication syndrome |
unknown |
MECP2 |
