domingo, 27 de enero de 2019

Chromosome Disorders | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Chromosome Disorders | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

National Center for Advancing and Translational Sciences

Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

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 
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 

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