Rare Disease Library

Distal Xq28 microduplication syndrome

Int22h1/Int22h2 mediated-Xq28 microduplication syndrome · Distal dup(X)q(28)

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

15q11q13 microduplication syndrome

15q11q13 duplication syndrome · Dup(15)(q11q13)

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

16p13.3 microduplication syndrome

Distal duplication 16p · Distal trisomy 16p

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

19p13.3 microduplication syndrome

Dup(19)(p13.3)

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

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

8q12 microduplication syndrome

Dup(8)(q12) · Trisomy 8q12

Corpus callosum agenesis-macrocephaly-hypertelorism syndrome

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

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 limb deficiencies-micrognathia syndrome

10q24 microduplication syndrome · Buttiens-Fryns syndrome

Microduplication Xp11.22p11.23 syndrome

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

Microtriplication 11q24.1 syndrome

Tetrasomy 11q24.1

PMP22-RAI1 contiguous gene duplication syndrome

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

Proximal 16p11.2 microduplication syndrome

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

Proximal Xq28 duplication syndrome

MECP2 duplication syndrome · X-linked intellectual disability syndrome, Lubs type

X-linked Alport syndrome-diffuse leiomyomatosis

Xq22.3 microdeletion syndrome

Xq12-q13.3 duplication syndrome

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

Xq21 microdeletion syndrome

Ayazi syndrome · Monosomy Xq21

Xq25 microduplication syndrome

Dup(X)(q25) · Xq25 microtriplication

Xq27.3q28 duplication syndrome

Dup(X)(q27.3q28) · Trisomy Xq27.3-q28