Rare Disease Library

17p13.3 microduplication syndrome

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

10p13-p14 deletion syndrome

Del(10)(p13p14) · Deletion 10p13-p14

10q22.3q23.3 microduplication syndrome

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

11p15.4 microduplication syndrome

Dup(11)p(15.4) · Trisomy 11p15.4

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)

15q13.3 microdeletion syndrome

Del(15)(q13.3) · Monosomy 15q13.3

16p11.2p12.2 microduplication syndrome

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

16p12.1p12.3 triplication syndrome

Tetrasomy 16p12.1p12.3 · Trip(16)(p12.1p12.3)

16p13.11 microduplication syndrome

Dup(16)(p13.11) · Trisomy 16p13.11

16p13.3 microduplication syndrome

Distal duplication 16p · Distal trisomy 16p

16q22 deletion syndrome

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

17q21.31 microduplication syndrome

Dup(17)(q21.31) · Trisomy 17q21.31

19p13.3 microduplication syndrome

Dup(19)(p13.3)

1p36 deletion syndrome

Del(1)(p36) · Deletion 1p36

1p36.33 duplication syndrome

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

2p25.3 microduplication syndrome

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

2q23.1 microduplication syndrome

Dup(2)(q23.1) · Trisomy 2q23.1

3M syndrome

3-M syndrome · Yakut short stature syndrome

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

7q11.23 microduplication syndrome

Dup(7)(q11.23) · Trisomy 7q11.23

8p inverted duplication/deletion syndrome

Invdupdel(8p) · Inverted 8p duplication/deletion syndrome

8p23.1 duplication syndrome

Dup(8)(p23.1p23.1) · Trisomy 8p23.1

8q12 microduplication syndrome

Dup(8)(q12) · Trisomy 8q12

Charcot-Marie-Tooth disease type 1A

CMT1A · Microduplication 17p12

Corpus callosum agenesis-macrocephaly-hypertelorism syndrome

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

Distal 17p13.1 microdeletion syndrome

Distal del(17)(p13.1)

Distal 17p13.3 microdeletion syndrome

Distal del(17)(p13.3 ) · Distal monosomy 17p13.3

Distal 22q11.2 microduplication syndrome

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

Distal 7q11.23 microduplication syndrome

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

Distal deletion 12p syndrome

12p13.33 microdeletion syndrome · Del(12)(p13.33)

Distal deletion 15q syndrome

Distal monosomy 15q · 15q26 deletion syndrome

Distal deletion 17q syndrome

Distal monosomy 17q · Monosomy 17qter

Distal deletion 3p syndrome

3p- syndrome · Distal monosomy 3p

Distal duplication 10q syndrome

Distal trisomy 10q · Telomeric duplication 10q

Distal duplication 11q syndrome

Distal trisomy 11q · Telomeric duplication 11q