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