List of rare chromosome disorders

List of rare Chromosome Disorders

• 15q13.3 microdeletion syndrome
• 16p11.2 deletion syndrome
• 17q23.1q23.2 microdeletion syndrome
• 1q duplications
• 1q21.1 microdeletion syndrome
• 22q11.2 deletion syndrome
• 22q11.2 duplication syndrome
• 2q23.1 microdeletion syndrome
• 2q37 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
• 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 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 3p deletion
• Chromosome 3p duplication
• Chromosome 3p- syndrome
• Chromosome 3q deletion
• Chromosome 3q duplication
• 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 - Not a rare disease
• Chromosome 9p deletion
• Chromosome 9p duplication
• Chromosome 9q deletion
• Chromosome 9q duplication
• 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
• X-linked susceptibility to autism-4
• Y chromosome infertility
• Y chromosome pericentric inversion

NIH genetic and rare disease info

• NIH info on List of rare chromosome disorders

List of rare chromosome disorders is a rare disease.