Rare Disease Library

8p inverted duplication/deletion syndrome

Invdupdel(8p) · Inverted 8p duplication/deletion syndrome

10p13-p14 deletion syndrome

Del(10)(p13p14) · Deletion 10p13-p14

11p15.4 microduplication syndrome

Dup(11)p(15.4) · Trisomy 11p15.4

14q11.2 microduplication syndrome

Dup(14)(q11.2) · Trisomy 14q11.2

14q32 duplication syndrome

Dup(14)q(32) · Predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication

15q11q13 microduplication syndrome

15q11q13 duplication syndrome · Dup(15)(q11q13)

16p13.11 microduplication syndrome

Dup(16)(p13.11) · Trisomy 16p13.11

16p13.3 microduplication syndrome

Distal duplication 16p · Distal trisomy 16p

16q22 deletion syndrome

17p11.2 microduplication syndrome

Potocki-Lupski syndrome · Trisomy 17p11.2

17p13.3 microduplication syndrome

17p13.3 duplication syndrome · Dup(17)(p13.3)

17q11.2 microduplication syndrome

Dup(17)(q11.2) · Grisart-Destrée syndrome

17q12 microduplication syndrome

Dup(17)(q12) · Trisomy 17q12

17q21.31 microduplication syndrome

Dup(17)(q21.31) · Trisomy 17q21.31

19p13.3 microduplication syndrome

Dup(19)(p13.3)

1p36 deletion syndrome

Del(1)(p36) · Deletion 1p36

1p36.33 duplication syndrome

1q21.1 microduplication syndrome

Dup(1)(q21.1) · Trisomy 1q21.1

20q11.2 microduplication syndrome

Dup(20)(q11.2)

21q deletion syndrome

21q- syndrome · Partial 21q monosomy

22q11.2 deletion syndrome

22q11DS · CATCH 22

22q11.2 duplication syndrome

Dup(22)(q11) · Duplication 22q11.2

2p21 microdeletion syndrome

2p21 deletion syndrome · Del(2)(p21)

2p25.3 microduplication syndrome

Trisomy 2p25.3 syndrome · Dup(2)(p25.3)

2q23.1 microduplication syndrome

Dup(2)(q23.1) · Trisomy 2q23.1

2q32q33 deletion syndrome

Monosomy 2q32q33 · Del(2)(q32q33)

3q26 microduplication syndrome

Dup(3)(q26) · Trisomy 3q26

3q26q28 deletion syndrome

Del(3)(q26q28) · Monosomy 3q26q28 syndrome

3q29 microdeletion syndrome

3q subtelomere deletion syndrome · 3qter deletion

3q29 microduplication syndrome

Trisomy 3q29

4p16.3 microduplication syndrome

Distal duplication 4p · Distal trisomy 4p

5p13 microduplication syndrome

Dup(5)(p13) · Trisomy 5p13

5q35 microduplication syndrome

Dup(5)(q35) · Trisomy 5q35

6q terminal deletion syndrome

7p22.1 microduplication syndrome

Dup(7)(p22.1) · Trisomy 7p22.1

7q11.23 microduplication syndrome

Dup(7)(q11.23) · Trisomy 7q11.23

8p11.2 deletion syndrome

Del(8)(p11.2) · Monosomy 8p11.2

8p23.1 duplication syndrome

Dup(8)(p23.1p23.1) · Trisomy 8p23.1

8p23.1 microdeletion syndrome

Del(8)(p23.1) · Monosomy 8p23.1

8q12 microduplication syndrome

Dup(8)(q12) · Trisomy 8q12

Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16

ATR syndrome linked to chromosome 16 · ATR syndrome, deletion type

Corpus callosum agenesis-macrocephaly-hypertelorism syndrome

7q36.3 microduplication syndrome · Dup(7)(q36.3)

Deletion 5q35 syndrome

Del (5)(q35) · Del (5)(qter)

Distal deletion 10p syndrome

Distal monosomy 10p · Monosomy 10pter

Distal deletion 10q syndrome

Distal monosomy 10q · Monosomy 10qter

Distal deletion 12p syndrome

12p13.33 microdeletion syndrome · Del(12)(p13.33)

Distal deletion 12q syndrome

Distal monosomy 12q · Monosomy 12qter

Distal deletion 13q syndrome

Distal monosomy 13q · 13q32 deletion