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

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