Chromosomes and associated 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 ca/cri du chat syndrome
chromosome 6…HLA system /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..ca breast/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