CHROMOSOMES and DISEASES

CHROMOSOME & DISEASES

✔Chromosome 1: Rh system /
neuroblastoma

✔Chromosome 2: Cystinuria/
hypobetalipoproteinemia

✔Chromosome 3: RCC/ALKAPTONURIA

✔Chromosome 4: Huntingtons chorea/
achondroplasia/parkinsons disease

✔Chromosome 5: FAP/colorectal
carcinoma/cri-du-chat syndrome

✔Chromosome 6: HLA system(short arm) /
MHA antigen/DM

✔Chromosome 7: Cystic fibrosis

✔Chromosome 8: Osteoporosis

✔Chromosome 9: ABO blood group /
friedreich’s ataxia

✔Chromosome 10:
Apert syndrome
Charcot-Marie-Tooth disease, type 1 Charcot-Marie-Tooth disease, type 4
Cockayne syndrome
Congenital erythropoietic porphyria
Cowden syndrome
Crouzon syndrome
Hirschprung disease
Multiple endocrine neoplasia type 2
Pfeiffer syndrome
Usher syndrome
Wolman syndrome

✔Chromosome 11: Sickle cell anaemia/beta thallasemia/wilms tumour/MEN -1/ataxia telengiectasia/human insulin gene/PTH gene

✔Chromosome 12: PKU/vWF/CA testes

✔Chromosome 13: Retinoblastoma/
osteosarcoma/wilsons ds

✔Chromosome 14: Familial HOCM/ alpha 1 antitripsin deficiency

✔Chromosome 15: Marfan’s syndrome/
albinism/pradder willi syndrome/
angelman syndrome

✔Chromosome 16: Alpha thallasemia/adult PKD

✔chromosome 17: Carninoma breast
(BRCA1)/medulloblastoma/
neurofibromatosis-1/ovarian tumour/ P53

✔Chromosome 18:
Erythropoietic protoporphyria/hereditary hemorrhagic telangiectasia/ Niemann-Pick disease/Type C porphyria/Selective Mutism/ Edwards syndrome (Trisomy 18)

✔Chromosome 19: Myotonia dystrophica/gene for insulin receptor

✔Chromosome 20: MODY type 1 DM /prions disease

✔Chromosome 21: Homocystinuria/
amyloidosis/folic acid transport

✔Chromosome 22: Meningioma/acoustic
neuroma/NF -2/Di-George syndrome

✔Chromosome Xq: Gene for androgen
insensitivity syndrome/ fragile X
syndrome/ Testicular feminisation/ X-
SCID/ X linked agaamaglobulinemia/
Fabry ds/ Lesch- Nyhan/ Hemophilia B/
Hemophilia A/ Hunter syndrome/ G6PD
deficiency

Add up whenever you find anything new!