Rare Disease Library

Partial duplication of chromosome 1 syndrome

Partial trisomy of chromosome 1

Partial duplication of chromosome 10 syndrome

Partial trisomy of chromosome 10

Partial duplication of chromosome 11 syndrome

Partial trisomy of chromosome 11

Partial duplication of chromosome 16 syndrome

Partial trisomy of chromosome 16

Partial duplication of chromosome 17 syndrome

Partial trisomy of chromosome 17

Partial duplication of chromosome 19 syndrome

Partial trisomy of chromosome 19

Partial duplication of the long arm of chromosome 1 syndrome

Partial duplication of chromosome 1q · Partial trisomy of chromosome 1q

Partial duplication of the long arm of chromosome 10 syndrome

Partial duplication of chromosome 10q · Partial trisomy of chromosome 10q

Partial duplication of the long arm of chromosome 11 syndrome

Partial duplication of chromosome 11q · Partial trisomy of chromosome 11q

Partial duplication of the long arm of chromosome 13 syndrome

Partial duplication of chromosome 13q · Partial trisomy of chromosome 13q

Partial duplication of the long arm of chromosome 14 syndrome

Partial duplication of chromosome 14q · Partial trisomy of chromosome 14q

Partial duplication of the long arm of chromosome 15 syndrome

Partial duplication of chromosome 15q · Partial trisomy of chromosome 15q

Partial duplication of the long arm of chromosome 16 syndrome

Partial duplication of chromosome 16q · Partial trisomy of the long arm of chromosome 16

Partial duplication of the long arm of chromosome 17 syndrome

Partial duplication of chromosome 17q · Partial trisomy of chromosome 17q

Partial duplication of the long arm of chromosome 18 syndrome

Partial duplication of chromosome 18q · Partial trisomy of the long arm of chromosome 18

Partial duplication of the long arm of chromosome 19 syndrome

Partial duplication of chromosome 19q · Partial trisomy of chromosome 19q

Partial duplication of the short arm of chromosome 1 syndrome

Partial duplication of chromosome 1p · Partial trisomy of chromosome 1p

Partial duplication of the short arm of chromosome 10 syndrome

Partial duplication of chromosome 10p · Partial trisomy of chromosome 10p

Partial duplication of the short arm of chromosome 11 syndrome

Partial duplication of chromosome 11p · Partial trisomy of chromosome 11p

Partial duplication of the short arm of chromosome 16 syndrome

Partial trisomy of chromosome 16p · Partial trisomy of the short arm of chromosome 16

Partial duplication of the short arm of chromosome 17 syndrome

Partial duplication of chromosome 17p · Partial trisomy of chromosome 17p

Partial duplication of the short arm of chromosome 19 syndrome

Partial duplication of chromosome 19p · Partial trisomy of chromosome 19p

Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11

Mosaic paternal uniparental disomy of chromosome 11 · UPD(11)pat

Maternal uniparental disomy of chromosome 1 syndrome

UPD(1)mat

Mosaic trisomy 1 syndrome

Mosaic trisomy chromosome 1 · Trisomy 1 mosaicism

Mosaic trisomy 10 syndrome

Trisomy 10 mosaicism · Mosaic trisomy chromosome 10

Mosaic trisomy 12 syndrome

Mosaic trisomy chromosome 12 · Trisomy 12 mosaicism

Mosaic trisomy 14 syndrome

Mosaic trisomy chromosome 14 · Trisomy 14 mosaicism

Mosaic trisomy 15 syndrome

Trisomy 15 mosaicism · Mosaic trisomy chromosome 15

Mosaic trisomy 16 syndrome

Mosaic trisomy chromosome 16 · Trisomy 16 mosaicism

Mosaic trisomy 17 syndrome

Trisomy 17 mosaicism · Mosaic trisomy chromosome 17

Mosaic trisomy 2 syndrome

Trisomy 2 mosaicism · Mosaic trisomy chromosome 2

Mosaic trisomy 20 syndrome

Trisomy 20 mosaicism · Mosaic trisomy chromosome 20

Mosaic trisomy 22 syndrome

Mosaic trisomy chromosome 22 · Trisomy 22 mosaicism

Mosaic trisomy 3 syndrome

Trisomy 3 mosaicism · Mosaic trisomy chromosome 3

Mosaic trisomy 4 syndrome

Mosaic trisomy chromosome 4 · Trisomy 4 mosaicism

Mosaic trisomy 5 syndrome

Trisomy 5 mosaicism · Mosaic trisomy chromosome 5

Mosaic trisomy 7 syndrome

Mosaic trisomy chromosome 7 · Trisomy 7 mosaicism

Mosaic trisomy 8 syndrome

Warkany syndrome · Trisomy 8 mosaicism

Mosaic trisomy 9 syndrome

Mosaic trisomy chromosome 9 · Trisomy 9 mosaicism

OBSOLETE: Uniparental disomy of chromosome 1

OBSOLETE: UPD(1)

OBSOLETE: Uniparental disomy of chromosome 11

OBSOLETE: UPD(11)

OBSOLETE: Uniparental disomy of chromosome 13

OBSOLETE: UPD(13)

OBSOLETE: Uniparental disomy of chromosome 14

OBSOLETE: UPD(14)

OBSOLETE: Uniparental disomy of chromosome 15

OBSOLETE: UPD(15)

OBSOLETE: Uniparental disomy of chromosome 6

OBSOLETE: UPD(6)

OBSOLETE: Uniparental disomy of chromosome 7

OBSOLETE: UPD(7)

Partial autosomal duplication/triplication syndrome

Partial autosomal trisomy/tetrasomy