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Diseases

Genetic and Rare Diseases Information Center (GARD)

Search for Rare or Genetic Diseases


Chromosome Disorders

* This symbol indicates that a condition is not rare but is one for which a question has been answered by the GARD Information Center.

Is Rare Condition? Disease Name
* 15q13.3 microdeletion syndrome
* 16p11.2 deletion syndrome
* 17q23.1q23.2 microdeletion syndrome
* 1q21.1 microdeletion syndrome
* 22q11.2 deletion syndrome
* 22q11.2 duplication syndrome
* 2q23.1 microdeletion syndrome
* 2q37 deletion syndrome
* 3p deletion syndrome
* 47 XXX syndrome
* 47, XYY syndrome
* 49,XXXXX syndrome
* Cat Eye syndrome
* Chromosome 1, uniparental disomy 1q12 q21
* Chromosome 10p deletion
* Chromosome 10p duplication
* Chromosome 10q deletion
* Chromosome 10q duplication
* Chromosome 11p deletion
* Chromosome 11p duplication
* Chromosome 11q deletion
* Chromosome 11q duplication
* Chromosome 12p deletion
* Chromosome 12p duplication
* Chromosome 12q deletion
* Chromosome 12q duplication
* Chromosome 13q deletion
* Chromosome 13q duplication
* Chromosome 14q deletion
* Chromosome 14q duplication
* Chromosome 15q deletion
* Chromosome 15q duplication
* Chromosome 16 trisomy
* Chromosome 16p deletion
* Chromosome 16p duplication
* Chromosome 16q deletion
* Chromosome 17p deletion
* Chromosome 17p duplication
* Chromosome 17q duplication
* Chromosome 18p deletion syndrome
* Chromosome 18p tetrasomy
* Chromosome 19p deletion
* Chromosome 19p duplication
* Chromosome 19q deletion
* Chromosome 19q duplication
* Chromosome 1p deletion
* Chromosome 1p duplication
* Chromosome 1p36 deletion syndrome
* Chromosome 1q deletion
* Chromosome 1q duplication
* Chromosome 1q21.1 duplication syndrome
* Chromosome 20 trisomy
* Chromosome 20p deletion
* Chromosome 20p duplication
* Chromosome 20q deletion
* Chromosome 20q duplication
* Chromosome 21q deletion
* Chromosome 21q duplication
* Chromosome 22q deletion
* Chromosome 2p deletion
* Chromosome 2p duplication
* Chromosome 2q deletion
* Chromosome 2q duplication
* Chromosome 2q24 microdeletion syndrome
* Chromosome 3, trisomy 3q
* Chromosome 3p deletion
* Chromosome 3p duplication
* Chromosome 3q deletion
* Chromosome 3q29 microduplication syndrome
* Chromosome 4p deletion
* Chromosome 4p duplication
* Chromosome 4q deletion
* Chromosome 4q duplication
* Chromosome 5p deletion
* Chromosome 5p duplication
* Chromosome 5q deletion
* Chromosome 5q duplication
* Chromosome 6p deletion
* Chromosome 6p duplication
* Chromosome 6q deletion
* Chromosome 6q duplication
* Chromosome 6q25 microdeletion syndrome
* Chromosome 7p deletion
* Chromosome 7p duplication
* Chromosome 7q deletion
* Chromosome 7q duplication
* Chromosome 8p deletion
* Chromosome 8p duplication
* Chromosome 8p23.1 deletion
* Chromosome 8q deletion
* Chromosome 8q duplication
*   Chromosome 9 inversion
* Chromosome 9p deletion
* Chromosome 9p duplication
* Chromosome 9q deletion
* Chromosome 9q duplication
* Chromosome Xp22 deletion syndrome
* Chromosome Xq duplication
* Chromosome Xq28 deletion syndrome
* Diploid-triploid mosaicism
* Distal chromosome 18q deletion syndrome
* Emanuel syndrome
* Jacobsen syndrome
* Kleefstra syndrome
* Koolen de Vries syndrome
* Mosaic monosomy 18
* Mosaic monosomy 22
* Mosaic trisomy 13
* Mosaic trisomy 14
* Mosaic trisomy 22
* Mosaic trisomy 7
* Mosaic trisomy 8
* Mosaic trisomy 9
* Nablus mask-like facial syndrome
* Pallister-Killian mosaic syndrome
* Partial deletion of Y
* Potocki-Shaffer syndrome
* Proximal chromosome 18q deletion syndrome
* Recombinant chromosome 8 syndrome
* Ring chromosome 1
* Ring chromosome 10
* Ring chromosome 11
* Ring chromosome 12
* Ring chromosome 13
* Ring chromosome 14
* Ring chromosome 15
* Ring chromosome 16
* Ring chromosome 17
* Ring chromosome 18
* Ring chromosome 19
* Ring chromosome 2
* Ring chromosome 20
* Ring chromosome 21
* Ring chromosome 22
* Ring chromosome 3
* Ring chromosome 4
* Ring chromosome 5
* Ring chromosome 6
* Ring chromosome 7
* Ring chromosome 8
* Ring chromosome 9
* Smith-Magenis syndrome
* Tetrasomy 9p
* Tetrasomy X
* Triploidy
* Trisomy 13
* Trisomy 17 mosaicism
* Trisomy 2 mosaicism
* Turner syndrome
* Wolf-Hirschhorn syndrome
* Y chromosome infertility
* Y chromosome pericentric inversion