Rare Disease Library

Partial duplication/triplication of the short arm of chromosome 9 syndrome

Partial duplication of chromosome 9p · Partial duplication of the short arm of chromosome 9

Proximal Xq28 duplication syndrome

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

Recombinant 8 syndrome

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

Trisomy 12p syndrome

Duplication 12p

Trisomy 18 syndrome

Chromosome 18 duplication · Edwards syndrome

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

Unilateral ocular duplication

Unilateral diplophthalmia · Unilateral diplophthalmos

Xp22.13p22.2 duplication syndrome

Dup(X)(p22) · Dup(X)(p22.13p22.2)

Xq27.3q28 duplication syndrome

Dup(X)(q27.3q28) · Trisomy Xq27.3-q28