This is a list of expert-curated microdeletion and microduplication syndromes involved in developmental disorders.
These pages provide expert-reviewed clinical synopses of the syndromes, the size and nature of deletions or duplications, lists of genes contained within these aberrations,
literature references, and links to appropriate support groups.
| Syndrome | Location | Size | Grade ? |
|---|---|---|---|
| 1p36 microdeletion syndrome |
1:10001-12840259
|
12.83 Mb | 1 |
| 1q21.1 susceptibility locus for Thrombocytopenia-Absent Radius (TAR) syndrome |
1:145386506-145748067
|
361.56 kb | 3 |
| Mature Variant Report - RBM8A (c.-21delG) |
1:145507646-145507646
|
1 bp | |
| Mature Variant Report - RBM8A (c.67+32G>C) |
1:145507765-145507765
|
1 bp | |
| 1q21.1 recurrent microdeletion (susceptibility locus for neurodevelopmental disorders) |
1:146533376-147883376
|
1.35 Mb | 3 |
| 1q21.1 recurrent microduplication (possible susceptibility locus for neurodevelopmental disorders) |
1:146533376-147883376
|
1.35 Mb | 3 |
| WAGR 11p13 deletion syndrome |
11:31806339-32457087
|
650.75 kb | |
| Potocki-Shaffer syndrome |
11:43994800-46052450
|
2.06 Mb | 1 |
| 12p13.33 Microdeletion Syndrome |
12:1080000-1346471
|
266.47 kb | |
| 12q14 microdeletion syndrome |
12:65071919-68645525
|
3.57 Mb | |
| Prader-Willi syndrome (Type 1) |
15:22749354-28438266
|
5.69 Mb | 1 |
| Angelman syndrome (Type 1) |
15:22749354-28438266
|
5.69 Mb | 1 |
| Prader-Willi Syndrome (Type 2) |
15:23619912-28438266
|
4.82 Mb | 1 |
| Angelman syndrome (Type 2) |
15:23619912-28438266
|
4.82 Mb | 1 |
| 15q13.3 microdeletion syndrome |
15:30910306-32445407
|
1.54 Mb | |
| 15q24 recurrent microdeletion syndrome |
15:74412643-75972911
|
1.56 Mb | |
| 15q26 overgrowth syndrome |
15:99357970-102521392
|
3.16 Mb | |
| ATR-16 syndrome |
16:60001-834372
|
774.37 kb | 1 |
| Rubinstein-Taybi Syndrome |
16:3775055-3930121
|
155.07 kb | 1 |
| 16p13.11 recurrent microduplication (neurocognitive disorder susceptibility locus) |
16:14986684-16486684
|
1.50 Mb | |
| 16p13.11 recurrent microdeletion (neurocognitive disorder susceptibility locus) |
16:14986684-16486684
|
1.50 Mb | |
| 16p11.2-p12.2 microduplication syndrome |
16:21475060-29284077
|
7.81 Mb | |
| 16p11.2-p12.2 microdeletion syndrome |
16:21512062-30199854
|
8.69 Mb | |
| Recurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus) |
16:21946524-22467284
|
520.76 kb | |
| 16p11.2 microduplication syndrome |
16:29606852-30199855
|
593.00 kb | |
| Miller-Dieker syndrome (MDS) |
17:1-2588909
|
2.59 Mb | 1 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
17:14097915-15470903
|
1.37 Mb | 1 |
| Hereditary Liability to Pressure Palsies (HNPP) |
17:14097915-15470903
|
1.37 Mb | 1 |
| Smith-Magenis Syndrome |
17:16773072-20222149
|
3.45 Mb | 1 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
17:16773072-20222149
|
3.45 Mb | |
| NF1-microdeletion syndrome |
17:29107097-30263321
|
1.16 Mb | 1 |
| RCAD (renal cysts and diabetes) |
17:34815072-36215917
|
1.40 Mb | |
| 17q21.31 recurrent microdeletion syndrome (Koolen de Vries syndrome) |
17:43705166-44294406
|
589.24 kb | 1 |
| 2p21 Microdeletion Syndrome |
2:44410451-44589584
|
179.13 kb | |
| 2p15-16.1 microdeletion syndrome |
2:59285696-61819815
|
2.53 Mb | |
| 2q33.1 deletion syndrome |
2:196925121-205206939
|
8.28 Mb | 1 |
| 2q37 monosomy |
2:239969863-240322643
|
352.78 kb | 1 |
| Early-onset Alzheimer disease with cerebral amyloid angiopathy |
21:27252860-27543446
|
290.59 kb | |
| Cat-Eye Syndrome (Type I) |
22:1-16971860
|
16.97 Mb | |
| 22q11 duplication syndrome |
22:19009792-21452445
|
2.44 Mb | 3 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
22:19009792-21452445
|
2.44 Mb | 1 |
| 22q11.2 distal deletion syndrome |
22:21917117-23722445
|
1.81 Mb | |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
22:51045516-51187844
|
142.33 kb | 1 |
| 3q29 microduplication syndrome |
3:195726835-197344663
|
1.62 Mb | |
| 3q29 microdeletion syndrome |
3:195726835-197344663
|
1.62 Mb | |
| Wolf-Hirschhorn Syndrome |
4:1569197-2110236
|
541.04 kb | 1 |
| Mature Variant Report - FGFR3 (c.1138G>A) |
4:1806119-1806119
|
1 bp | |
| Cri du Chat Syndrome (5p deletion) |
5:10001-12533304
|
12.52 Mb | 1 |
| Familial Adenomatous Polyposis |
5:112043201-112181936
|
138.74 kb | |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
5:126112314-126172712
|
60.40 kb | |
| Sotos syndrome |
5:175724636-177052116
|
1.33 Mb | 1 |
| Williams-Beuren Syndrome (WBS) |
7:72744455-74142672
|
1.40 Mb | 1 |
| 7q11.23 duplication syndrome |
7:72744455-74142672
|
1.40 Mb | |
| Split hand/foot malformation 1 (SHFM1) |
7:96318078-96339203
|
21.13 kb | |
| 8p23.1 duplication syndrome |
8:8100055-11764629
|
3.66 Mb | |
| 8p23.1 deletion syndrome |
8:8100055-11764629
|
3.66 Mb | |
| 8q21.11 Microdeletion Syndrome |
8:77226464-77766239
|
539.78 kb | |
| 9q subtelomeric deletion syndrome |
9:140513443-140730578
|
217.14 kb | 1 |
| Leri-Weill dyschondrostosis (LWD) - SHOX deletion |
X:460558-753877
|
293.32 kb | |
| Leri-Weill dyschondrostosis (LWD) - SHOX deletion |
X:751878-867875
|
116.00 kb | |
| Steroid sulphatase deficiency (STS) |
X:6455812-8133195
|
1.68 Mb | |
| Xp11.22-p11.23 Microduplication |
X:48334549-52117661
|
3.78 Mb | |
| Xp11.22-linked intellectual disability |
X:53401070-53683275
|
282.21 kb | |
| Pelizaeus-Merzbacher disease |
X:103031438-103047547
|
16.11 kb | |
| Xq28 (MECP2) duplication |
X:153287263-153363188
|
75.93 kb | |
| Xq28 Microduplication |
X:153624563-153881853
|
257.29 kb | |
| AZFa |
Y:14352761-15154862
|
802.10 kb | |
| AZFb+AZFc |
Y:19964826-27793830
|
7.83 Mb | |
| AZFb |
Y:20118045-26065197
|
5.95 Mb | |
| AZFc |
Y:24977425-28033929
|
3.06 Mb |