Rare Disease Library

Recombinant 8 syndrome

Duplication 8q/deletion 8p · Rec(8) syndrome

16p13.3 microduplication syndrome

Distal duplication 16p · Distal trisomy 16p

22q11.2 duplication syndrome

Dup(22)(q11) · Duplication 22q11.2

4p16.3 microduplication syndrome

Distal duplication 4p · Distal trisomy 4p

8p inverted duplication/deletion syndrome

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

8p23.1 duplication syndrome

Dup(8)(p23.1p23.1) · Trisomy 8p23.1

8q21.11 microdeletion syndrome

Del(8)(q21.11) · Deletion 8q21.11

8q24.3 microdeletion syndrome

Del(8)(q24.3) · Deletion 8q24.3

Autosomal trisomy syndrome

Autosomal duplication

Caudal duplication

Dipygus · Split notochord syndrome

Distal duplication 18q syndrome

Distal trisomy 18q · Telomeric duplication 18q

Distal duplication 8q syndrome

Distal trisomy 8q · Telomeric duplication 8q

Duplication of the pituitary gland

DPG-plus syndrome · Duplication of the pituitary gland-plus syndrome

Duplication of urethra

Monosomy 18q syndrome

18q- syndrome · Deletion 18q

Monosomy 22 syndrome

Del(22) · Deletion 22

Monosomy 5p syndrome

Cri du chat syndrome · Deletion 5p

OBSOLETE: Duplication 4q

OBSOLETE: Trisomy 4q

Trisomy 12p syndrome

Duplication 12p

Trisomy 18p syndrome

Duplication 18p · Duplication of the short arm of chromosome 18

Trisomy 1q syndrome

Duplication 1q

Trisomy 20p syndrome

Dup(20p) · Duplication of 20p

Trisomy 4p syndrome

Trisomy of the short arm of chromosome 4 · Duplication 4p

Trisomy 5p syndrome

Duplication 5p · Duplication of the short arm of chromosome 5

Trisomy 8p syndrome

Duplication 8p

Trisomy 8q syndrome

Duplication 8q

Trisomy 9p syndrome

Duplication 9p · Duplication of the short arm of chromosome 9

Xp22.13p22.2 duplication syndrome

Dup(X)(p22) · Dup(X)(p22.13p22.2)