DISORDERS

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 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 porphyri Usher syndrome Usher

syndrome type I 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/ P 53 gene

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

Chromosome Xp – Ocular albinism/ Chr

Granulomatous Ds/ DMD/ Menkes syndrome