Rare Disease Library

1q21.1 microduplication syndrome

Dup(1)(q21.1) · Trisomy 1q21.1

10q22.3q23.3 microduplication syndrome

Dup(10)(q22.3q23.3) · Trisomy 10q22.3q23.3

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

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 microdeletion syndrome

Del(1)(q21) · Monosomy 1q21.1

2q23.1 microduplication syndrome

Dup(2)(q23.1) · Trisomy 2q23.1

3q26 microduplication syndrome

Dup(3)(q26) · Trisomy 3q26

7p22.1 microduplication syndrome

Dup(7)(p22.1) · Trisomy 7p22.1

8q21.11 microdeletion syndrome

Del(8)(q21.11) · Deletion 8q21.11

Trisomy 17p syndrome

Dup(17p)

Xq25 microduplication syndrome

Dup(X)(q25) · Xq25 microtriplication