Rare Disease Library

3q26 microduplication syndrome

Dup(3)(q26) · Trisomy 3q26

10q22.3q23.3 microduplication syndrome

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

14q32 duplication syndrome

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

16p13.3 microduplication syndrome

Distal duplication 16p · Distal trisomy 16p

17p13.3 microduplication syndrome

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

17q21.31 microduplication syndrome

Dup(17)(q21.31) · Trisomy 17q21.31

19p13.3 microduplication syndrome

Dup(19)(p13.3)

1q21.1 microduplication syndrome

Dup(1)(q21.1) · Trisomy 1q21.1

2p25.3 microduplication syndrome

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

2q23.1 microduplication syndrome

Dup(2)(q23.1) · Trisomy 2q23.1

3q26q27 microdeletion syndrome

Del(3)(q26q27) · Monosomy 3q26q27

3q26q28 deletion syndrome

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

Corpus callosum agenesis-macrocephaly-hypertelorism syndrome

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

Xq12-q13.3 duplication syndrome

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

Xq25 microduplication syndrome

Dup(X)(q25) · Xq25 microtriplication

Xq27.3q28 duplication syndrome

Dup(X)(q27.3q28) · Trisomy Xq27.3-q28