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