Rare Disease Library

17q12 microduplication syndrome

Dup(17)(q12) · Trisomy 17q12

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)

17p13.3 microduplication syndrome

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

17q11 microdeletion syndrome

Del(17)(q11) · Monosomy 17q11

17q11.2 microduplication syndrome

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

17q12 microdeletion syndrome

Del(17)(q12) · Monosomy 17q12

17q21.31 microduplication syndrome

Dup(17)(q21.31) · Trisomy 17q21.31

1q21.1 microduplication syndrome

Dup(1)(q21.1) · Trisomy 1q21.1

20q11.2 microduplication syndrome

Dup(20)(q11.2)

22q11.2 duplication syndrome

Dup(22)(q11) · Duplication 22q11.2

2q23.1 microduplication syndrome

Dup(2)(q23.1) · Trisomy 2q23.1

8q12 microduplication syndrome

Dup(8)(q12) · Trisomy 8q12

FOXG1 syndrome due to 14q12 microdeletion

Del(14)(q12) · Monosomy 14q12

PMP22-RAI1 contiguous gene duplication syndrome

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

Trisomy 17p syndrome

Dup(17p)

Xq12-q13.3 duplication syndrome

Dup(X)(q12-q13.3) · Kaya-Prontera syndrome