CHROMOSOMESAND 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 syndromeChromosome 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 deficiencyChromosome Xp – Ocular albinism/ Chr Granulomatous Ds/ DMD/ Menkes syndrome