Syndrome Location Interval (Mb) Grade ?
Wolf-Hirschhorn Syndrome 4:1569197-2110236 0.54 1
Cri du Chat Syndrome (5p deletion) 5:10001-12533304 12.52 1
Williams-Beuren Syndrome (WBS) 7:72744455-74142672 1.40 1
Angelman syndrome (Type 1) 15:22749354-28438266 5.69 1
Rubinstein-Taybi Syndrome http://www.ncbi.nlm.nih.gov/books/NBK1526/ 16:3775055-3930121 0.16 1
Smith-Magenis Syndrome 17:16773072-20222149 3.45 1
Prader-Willi syndrome (Type 1) 15:22749354-28438266 5.69 1
NF1-microdeletion syndrome 17:29107097-30263321 1.16 1
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) 22:19009792-21452445 2.44 1
AZFb Y:20118045-26065197 5.95
Sotos syndrome 5:175724636-177052116 1.33 1
1p36 microdeletion syndrome 1:10001-12840259 12.83 1
Potocki-Lupski syndrome (17p11.2 duplication syndrome) 17:16773072-20222149 3.45
22q13 deletion syndrome (Phelan-Mcdermid syndrome) 22:51045516-51187844 0.14 1
Miller-Dieker syndrome (MDS) 17:1-2588909 2.59 1
AZFa Y:14352761-15154862 0.80
AZFc Y:24977425-28033929 3.06
AZFb+AZFc Y:19964826-27793830 7.83
Steroid sulphatase deficiency (STS) X:6455812-8133195 1.68
Charcot-Marie-Tooth syndrome type 1A (CMT1A) 17:14097915-15470903 1.37 1
Hereditary Liability to Pressure Palsies (HNPP) 17:14097915-15470903 1.37 1
22q11 duplication syndrome 22:19009792-21452445 2.44 3
Potocki-Shaffer syndrome 11:43994800-46052450 2.06 1
WAGR 11p13 deletion syndrome 11:31806339-32457087 0.65
3q29 microdeletion syndrome 3:195726835-197344663 1.62
Pelizaeus-Merzbacher disease X:103031438-103047547 0.02
8p23.1 deletion syndrome 8:8100055-11764629 3.66
Cat-Eye Syndrome (Type I) 22:1-16971860 16.97
7q11.23 duplication syndrome 7:72744455-74142672 1.40
Familial Adenomatous Polyposis 5:112043201-112181936 0.14
2q37 monosomy 2:239969863-240322643 0.35 1
Xq28 (MECP2) duplication X:153287263-153363188 0.08
Split hand/foot malformation 1 (SHFM1) 7:96318078-96339203 0.02
RCAD (renal cysts and diabetes) 17:34815072-36215917 1.40
Early-onset Alzheimer disease with cerebral amyloid angiopathy 21:27252860-27543446 0.29
2q33.1 deletion syndrome 2:196925121-205206939 8.28 1
9q subtelomeric deletion syndrome 9:140513443-140730578 0.22 1
Prader-Willi Syndrome (Type 2) 15:23619912-28438266 4.82 1
Angelman syndrome (Type 2) 15:23619912-28438266 4.82 1
17q21.31 recurrent microdeletion syndrome (Koolen de Vries syndrome) 17:43705166-44294406 0.59 1
Leri-Weill dyschondrostosis (LWD) - SHOX deletion X:460558-753877 0.29
Leri-Weill dyschondrostosis (LWD) - SHOX deletion X:751878-867875 0.12
Adult-onset autosomal dominant leukodystrophy (ADLD) 5:126112314-126172712 0.06
1q21.1 recurrent microdeletion (susceptibility locus for neurodevelopmental disorders) 1:146533376-147883376 1.35 3
22q11.2 distal deletion syndrome 22:21917117-23722445 1.81
15q13.3 microdeletion syndrome 15:30910306-32445407 1.54
1q21.1 susceptibility locus for Thrombocytopenia-Absent Radius (TAR) syndrome 1:145386506-145748067 0.36 3
ATR-16 syndrome 16:60001-834372 0.77 1
15q24 recurrent microdeletion syndrome 15:74412643-75972911 1.56
1q21.1 recurrent microduplication (possible susceptibility locus for neurodevelopmental disorders) 1:146533376-147883376 1.35 3
16p11.2-p12.2 microdeletion syndrome 16:21512062-30199854 8.69
2p15-16.1 microdeletion syndrome 2:59285696-61819815 2.53
2p21 Microdeletion Syndrome 2:44410451-44589584 0.18
Xq28 Microduplication X:153624563-153881853 0.26
Xp11.22-p11.23 Microduplication X:48334549-52117661 3.78
Xp11.22-linked intellectual disability X:53401070-53683275 0.28
12q14 microdeletion syndrome 12:65071919-68645525 3.57
3q29 microduplication syndrome 3:195726835-197344663 1.62
16p11.2 microduplication syndrome 16:29606852-30199855 0.59
16p13.11 recurrent microdeletion (neurocognitive disorder susceptibility locus) 16:14986684-16486684 1.50
16p13.11 recurrent microduplication (neurocognitive disorder susceptibility locus) 16:14986684-16486684 1.50
15q26 overgrowth syndrome 15:99357970-102521392 3.16
8p23.1 duplication syndrome 8:8100055-11764629 3.66
8q21.11 Microdeletion Syndrome 8:77226464-77766239 0.54
12p13.33 Microdeletion Syndrome 12:1080000-1346471 0.27
Recurrent 16p12.1 microdeletion (neurodevelopmental susceptibility locus) 16:21946524-22467284 0.52
Mature Variant Report - RBM8A (c.-21delG) 1:145507646-145507646 0.00
Mature Variant Report - RBM8A (c.67+32G>C) 1:145507765-145507765 0.00
Mature Variant Report - FGFR3 (c.1138G>A) 4:1806119-1806119 0.00
16p11.2-p12.2 microduplication syndrome 16:21475060-29284077 7.81