Disorder Mutation Chromosome 22q11.2 deletion syndrome D 22q Angelman syndrome DCP 15 Canavan disease 17p Charcot–Marie–Tooth disease Color blindness P X Cri du chat D 5 Cystic fibrosis P 7q Down syndrome C 21 Duchenne muscular dystrophy D Xp Haemochromatosis P 6 Haemophilia P X Klinefelter syndrome C X Neurofibromatosis 17q/22q/? Phenylketonuria P 12q Polycystic kidney disease P 16 (PKD1) or 4 (PKD2) Prader–Willi syndrome DC 15 Sickle-cell disease P 11p Tay–Sachs disease P 15 Turner syndrome C X |
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