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