CHROMOSOMES AND ASSOCIATED DISORDERS Must have a review....
Dr. Ajay Gupta
CHROMOSOMES AND ASSOCIATED DISORDERS
Must have a review....

ğŸŽ¯Chromosome 1:
* Rh system 
* Neuroblastoma

ğŸŽ¯Chromosome 2:
*Cystinuria
* Hypobetalipoproteinemi


ğŸŽ¯Chromosome 3:
* RCC
* ALKAPTONURIA

ğŸŽ¯Chromosome 4:
* Huntingtons chorea
* Achondroplasia
* Parkinsons disease

ğŸŽ¯Chromosome 5:
* FAP
* Colorectal carcinoma
* Cri-du-chat syndrome

ğŸŽ¯Chromosome 6:
* HLA system(short arm)
* MHA antigen
* DM

ğŸŽ¯Chromosome 7:
*Cystic fibrosis

ğŸŽ¯Chromosome 8:
*Osteoporosis

ğŸŽ¯Chromosome 9:
* ABO blood group
* Friedreich’s ataxia

ğŸŽ¯Chromosome 10:
* Apert syndrome
* Charcot-Marie-Tooth disease
* Cockayne syndrome
* Congenital
erythropoietic porphyria
* Cowden syndrome   
* Crouzon syndrome
* Hirschprung disease
* MEN-2
* Pfeiffer syndrome
* porphyri Usher syndrome
* Usher syndrome type I
* Wolman syndrome


ğŸŽ¯Chromosome 11:
* Sickle cell anaemia/
* Beta thallasemia
* Wilms tumour/
* MEN -1
* Ataxia telengiectasia
* Human insulin gene
* PTH gene


ğŸŽ¯Chromosome 12:
* PKU
* vWF
* CA testes


ğŸŽ¯Chromosome 13:
* Retinoblastoma
* Osteosarcoma
* Wilsons ds
* BRCA-2

ğŸŽ¯Chromosome 14:
* Familial HOCM/
* alpha 1 antitripsin deficiency


ğŸŽ¯Chromosome 15:
* Marfan’s syndrome
* Albinism
* Pradder willi syndrome
* Angelman syndrome


ğŸŽ¯Chromosome 16:
* Alpha thallasemia
* Adult PKD


ğŸŽ¯chromosome 17:
* Carninoma breast(BRCA1)
* Medulloblastoma
* Neurofibromatosis-1
* Ovarian tumour
* p53 gene


ğŸŽ¯Chromosome 18:
* Erythropoietic protoporphyria hereditary
* Hemorrhagic telangiectasia
* Niemann-Pick disease
* Type C porphyria
* Selective Mutism
* Edwards syndrome (Trisomy 18)


ğŸŽ¯Chromosome 19:
* Myotonia dystrophica
* Gene for insulin receptor


ğŸŽ¯Chromosome 20:
* MODY type 1 DM
* Prions disease


ğŸŽ¯Chromosome 21:
* Homocystinuria
* Amyloidosis…folic acid transport..


ğŸŽ¯Chromosome 22:
* Meningioma
* Acoustic neuroma
* NF -2
* Di-George syndrome


ğŸŽ¯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


ğŸŽ¯Chromosome Xp –
* Ocular albinism
* Chr Granulomatous Ds
* DMD
* Menkes syndrome
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Dr. S●●●n N●●●●●●r
Dr. S●●●n N●●●●●●r Anaesthesiology
Thanks doctor!
Oct 9, 2018Like1
Dr. A●●y G●●●a
Dr. A●●y G●●●a General Medicine
Wc @suman
Oct 9, 2018Like