Rare Disease Library

7q11.23 microduplication syndrome

Dup(7)(q11.23) · Trisomy 7q11.23

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)

16p11.2p12.2 microduplication syndrome

Dup(16)(p11.2p12.2) · Trisomy 16p11.2p12.2

16p13.11 microduplication syndrome

Dup(16)(p13.11) · Trisomy 16p13.11

17p11.2 microduplication syndrome

Potocki-Lupski syndrome · Trisomy 17p11.2

17q11.2 microduplication syndrome

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

17q12 microduplication syndrome

Dup(17)(q12) · Trisomy 17q12

1q21.1 microduplication syndrome

Dup(1)(q21.1) · Trisomy 1q21.1

22q11.2 duplication syndrome

Dup(22)(q11) · Duplication 22q11.2

2q23.1 microduplication syndrome

Dup(2)(q23.1) · Trisomy 2q23.1

3q26 microduplication syndrome

Dup(3)(q26) · Trisomy 3q26

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

7p22.1 microduplication syndrome

Dup(7)(p22.1) · Trisomy 7p22.1

8p23.1 duplication syndrome

Dup(8)(p23.1p23.1) · Trisomy 8p23.1

8q12 microduplication syndrome

Dup(8)(q12) · Trisomy 8q12

Distal 22q11.2 microduplication syndrome

Distal dup(22)(q11.2) · Distal trisomy 22q11.2

Distal 7q11.23 microdeletion syndrome

Distal del(7)(q11.23) · Distal monosomy 7q11.23

Distal 7q11.23 microduplication syndrome

Distal dup(7)(q11.23) · Distal trisomy 7q11.23

Distal duplication 1p36 syndrome

Distal trisomy 1p36 · Telomeric duplication 1p36

Distal duplication 20q syndrome

Distal trisomy 20q · Telomeric duplication 20q

Distal duplication 22q syndrome

Distal trisomy 22q · Telomeric duplication 22q

Distal duplication 2p syndrome

Distal trisomy 2p · Telomeric duplication 2p

Distal duplication 2q syndrome

Distal trisomy 2q · Telomeric duplication 2q

Distal duplication 3p syndrome

Distal trisomy 3p · Telomeric duplication 3p

Distal duplication 4q syndrome

Distal trisomy 4q · Telomeric duplication 4q

Distal duplication 5q syndrome

Distal trisomy 5q · Telomeric duplication 5q

Distal duplication 6p syndrome

Distal trisomy 6p · Telomeric duplication 6p

Distal duplication 6q syndrome

Distal trisomy 6q · Telomeric duplication 6q

Distal duplication 7p syndrome

Distal trisomy 7p · Telomeric duplication 7p

Distal duplication 8q syndrome

Distal trisomy 8q · Telomeric duplication 8q

Distal duplication 9q syndrome

Distal trisomy 9q · Telomeric duplication 9q

Down syndrome

Trisomy 21

Microduplication Xp11.22p11.23 syndrome

Dup(X)(p11.22p11.23) · Trisomy Xp11.22p11.23

PMP22-RAI1 contiguous gene duplication syndrome

Yuan-Harel-Lupski syndrome · 17p11.2p12 microduplication syndrome

Williams syndrome

Deletion 7q11.23 · Monosomy 7q11.23