Rare Disease Library

PMP22-RAI1 contiguous gene duplication syndrome

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

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

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

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

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

7q11.23 microduplication syndrome

Dup(7)(q11.23) · Trisomy 7q11.23

8q12 microduplication syndrome

Dup(8)(q12) · Trisomy 8q12

Distal 22q11.2 microduplication syndrome

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

Distal duplication 17q syndrome

Distal trisomy 17q · Telomeric duplication 17q

Distal duplication 1p36 syndrome

Distal trisomy 1p36 · Telomeric duplication 1p36

Distal duplication 2p syndrome

Distal trisomy 2p · Telomeric duplication 2p

Distal duplication 2q syndrome

Distal trisomy 2q · Telomeric duplication 2q

Down syndrome

Trisomy 21

Microduplication Xp11.22p11.23 syndrome

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

Proximal 16p11.2 microduplication syndrome

Proximal dup(16)(p11.2) · Proximal trisomy 16p11.2

Trisomy 17p syndrome

Dup(17p)