Genetic Disorder

A genetic disorder is an illness caused by deformities in chromosomes or genes. There are single gene defects, which are caused by a single gene mutation, and multifactorial diseases, which is multiple gene mutations and often associated with an outside environmental factor. Over 4000 genetic disorders are caused by a single gene mutation. Genomic imprinting, uniparental disomy, division of recessive and dominant genes, and division of autosomal and X-linked types are all related to single genetic mutations. Genetic disorders are often called syndromes. Genotypes are written in lower case or upper case A (aa, AA, or Aa).
Cri du chat syndrome is a rare disorder. It is caused due to a partial deletion of the short arm chromosome number 5. 90% of the cases are from sporadic deletion where the other 10% is from unequal segregation. It affects every 1 in 20,000 to 50,000 births with a female to male ratio of 4:3. In French, Cri du chat means call of the cat. It got this name because infants affected with this disease will have a characteristic cry similar to a cat’s meow. Other symptoms are feeding problems, poor growth, severe cognitive speech and motor delays, behavioral problems, unusual facial features, excessive dribbling, and constipation. This is mainly most visible in toddlers.
Stem cell research is way of treating disease. It is the process of gathering cells from old embryos, which can virtually become any type of human cell. Some people think that the life is begun as soon as the egg is fertilized and consider the embryo a living being. Stem cell research is essentially destroying that embryo to form new cells. Therefore, some people find stem cell to be morally repulsive. I think it should be legal because I do not think of the embryo as a human life. I think it would be really helpful to those diagnosed with syndromes and it could be used to treat those people. I am unsure of the impact stem cell research could affect Cri du chat syndrome, but it could be helpful to many other syndromes.