From: Microarray testing in clinical diagnosis: an analysis of 5,300 New Zealand patients
OMIM # | Syndrome | Number | del x1 | dup x3 | trp x4 |
---|---|---|---|---|---|
612474/612475 | 1q21.1c | 31 | 9 | 22 | - |
612530 | 1q41q42 | 3 | 3 | - | - |
612313 | 2q32 | 2 | 2 | - | - |
609425 | 3q29 | 4 | 4 | - | - |
194190 | 4p16.3 | 3 | 1 | 2 | - |
149730 | LADD syndrome | 2 | 2 | - | - |
123450 | Cri du Chat | 1 | 1 | - | - |
117550 | Sotos | 1 | 1 | - | - |
194050/609757 | 7q11.23 | 16 | 12 | 4 | - |
613729 | Distal 7q11.23 | 4 | 4 | - | - |
610253 | Kleefstra | 2 | 2 | - | - |
194072 | WAGR (WT1) | 1 | 1 | - | - |
601803 | Pallister-Killian | 1 | - | - | 1 |
615656 | 15q11.2c | 37 | 21 | 16 | - |
105830/176270 | AS/PWS | 10 | 10 | - | - |
612001 | 15q13.3c | 17 | 17 | - | - |
611913/614671 | 16p11.2c | 29 | 21 | 7 | 1 |
613444 | 16p11.2c | 5 | 5 | - | - |
613604 | 16p12.2-p11.2c | 1 | 1 | - | - |
Hanner (2009) [22] | 16p13.11c | 13 | 6 | 7 | - |
614527/614526 | 17q12 (HNF1β) | 12 | 5 | 7 | - |
610883 | Potocki-Lupski | 7 | - | 7 | - |
182290 | SMS | 1 | 1 | - | - |
118220/162500 | CMT/NHPP | 6 | 5 | 1 | - |
247200/613215 | 17p13.3 | 5 | 3 | 1 | 1 |
610443/613533 | 17q21.31 | 5 | 3 | 2 | - |
613675 | NF1 | 3 | 3 | - | - |
115470 | Cat eye syndrome | 1 | - | 1 | - |
188400/192430 | DGS/VCFS | 13 | 13 | - | - |
606232 | Phelan McDermid | 8 | 8 | - | - |
312865/400020 | SHOX b | 3 | 3 | - | - |
300260 | MECP2 | 2 | - | 2 | - |
310200 | DMD | 2 | 2 | - | - |