1. What is the cause of genetic disorder "Albinism"?
caused by recessive gene which block the conversion of tyrosine to melanin resulting in absence of pigment in skin, hair and iris of eye
2. What is the cause of genetic disorder "Angelman Syndrome"?
inherited disorder characterized by mental retardation, decreased muscle tone, and life-threatening obesity including jerky movements and spontaneous laughter
3. What is the cause of genetic disorder "Canavan Disease"?
progressive damage to nerve cells in the brain
4. What is the cause of genetic disorder "Cat’s Cry Syndrome"?
high pitched infant’s cry and sounds like a cat
5. What is the cause of genetic disorder "Celiac Disease"?
damage to the small intestine when certain types of protein, called gluten, are eaten
6. What is the cause of genetic disorder "Color Blindness"?
unable to see colors in a normal way
7. What is the cause of genetic disorder "Cystic Fibrosis"?
exocrine glands of afflicted individuals produce abnormally thick mucus that block the intestines and lung passageways
8. What is the cause of genetic disorder "DiGeorge Syndrome"?
congenital heart problems, frequent infections
9. What is the cause of genetic disorder "Down Syndrome"?
caused by trisomy of chromosome 21 resulting in physically and mentally retarded patient with widely separated eyes
10. What is the cause of genetic disorder "Fragile X"?
learning disabilities and cognitive impairment
11. What is the cause of genetic disorder "Glactosemia"?
caused by recessive autosomal gene resulting in defective enzyme system causing cataract and brain damage
12. What is the cause of genetic disorder "Haemochromatosis"?
causes the body to absorb too much iron from the diet
13. What is the cause of genetic disorder "Hemophilia"?
caused by sex-linked gene which produce defective protein which is essential for blood clotting
14. What is the cause of genetic disorder "Huntington’s Disease"?
caused by dominant autosomal gene resulting in deterioration of nervous system
15. What is the cause of genetic disorder "Klinefelter Syndrome"?
caused by additional x-chromosome resulting in improper development of testes
16. What is the cause of genetic disorder "Muscular Dystrophy"?
caused by sex linked recessive gene resulting in childhood muscle weakness
17. What is the cause of genetic disorder "Phenylketonuria"?
caused by recessive autosomal gene resulting into brain damage
18. What is the cause of genetic disorder "Polycystic Kidney Disease"?
growth of numerous cysts in the kidneys which reduce kidney function and lead to kidney failure
19. What is the cause of genetic disorder "Sickle Cell Anaemia"?
caused by recessive gene that lead to abnormal haemoglobin molecule and sickle shaped RBC with reduced haemoglobin
20. What is the cause of genetic disorder "Tay Sach Disease"?
caused by autosomal recessive gene resulting in cerebral degeneration and epilepsy
21. What is the cause of genetic disorder "Thalassemia"?
caused by recessive gene resulting in abnormality in haemoglobin structure
22. What is the cause of genetic disorder "Turner Syndrome"?
caused by lack of x-chromosome resulting in phenotypical female but rudimentary sex organs