Microdeletion 3q27-3q29
Microdeletion 5q22.2q23.1
Microdeletion 22q13 – Syndrome
WAGRO Syndrome
Microdeletion 2q12.1
Microdeletion 6q16
Phelan–McDermid
Yuan-Harel-Lupski Syndrome
Microdeletion 2q12.2
Microdeletion 2q26–q27
Microduplication 18p
Microdeletion 9p
Cat-Eye Syndrome
Microdeletion 20q
Microdeletion 7p21.1–p14.3
Jacobsen Syndrome
Microduplication 20q13.2
Microdeletion 7q21.1–q22.1
Microdeletion 16q21-q22
DiGeorge Syndrome 2 (DGS2)
9q22.3 microdeletion
7q22.1q31.1 microdeletion
1p36 microdeletion
6q11–q14 microdeletion
Langer-Giedion syndrome (LGS)
8p21.3-p23.3 microdeletion
7q31 microdeletion – Childhood verbal apraxia
2p16.1-p15 microdeletion
18q21-qter microdeletion
8q12.1–q12.2 microdeletion
2p11.2 triplication syndrome
6q21q23 microdeletion
7p33–36.1 microdeletion
Xq21 microdeletion
2q12.1-p12 microdeletion
9q13q21.13
Microdeletion 8p12–p12.1
Microdeletion 10q21-q24
Microduplication Xp11.23-p12.2
Microduplication 9p
Microdeletion 8q11–q12.1
Dandy–Walker Syndrome (DWS)
Microduplication 2q31
Microdeletion 11q23.3-11q25
Microdeletion 8q21.11
Microdeletion 18p
Microdeletion 2p31
Microdeletion 14q24.1q
Microdeletion 8q22.1–q23.3
Microdeletion 10q26
Microdeletion Xq28
Microdeletion 15q11-q13
Microdeletion 8q24.11q24.3
3p Microdeletion Syndrome
2q21 Microduplication
2q13 Microduplication
9q21.11–q21.2 Microdeletion
2p12–p11.2 Microdeletion
Alpha Thalassemia Syndrome, Delay
19q13.2 Microduplication
10q24.2–q25.3 Microdeletion
5p14.3 Microdeletion
Mental
19p13.3 Microdeletion
12q24.3–q32.33 Microdeletion
13q14 Microdeletion
16p13.3 Microdeletion
t(4;20)(q11;q13) Translocation
12q22–13q32.1 Microdeletion
10q23.2–q23.2
16p11.2-p12.2 microduplication
20q11.2 microdeletion
14q22–23 microdeletion
Levy–Shanske syndrome
5q12 microdeletion
Xq26.2–q27 .1 microdeletion
15q15.2–q22.2 microdeletion
15q26-qter microdeletion
1p32-p31 microdeletion
2q23.1 microdeletion
17q22 microdeletion
6pter-p24 microdeletion
1p31 microduplication
2q24.1q24.2 microdeletion
18q12.2 microduplication
Split-hand/foot malformation 5 (SHFM5)
Microdeletion 16q22
2q37 microdeletion
18q21.2 microdeletion
Xq23–q28 microduplication
2p25 microduplication
3p14 microdeletion
19q13.1 microdeletion
Holoprosencephaly 6 (HPE6)
15q25 microdeletion
4p15 microdeletion
20q13.2–q13.33 microdeletion
Xp21 microdeletion
2q21.1 microdeletion
21q21.1–q21.3 microdeletion
Cri du Chat syndrome
5p13.3p14.3 microdeletion