Task 1: Kleinfelter's Syndrome

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Task 1 Kleinfelters syndrome An error in cell division called nondisjunction which results in a reproductive cell with an abnormal number of chromosomes .Resulting in one of more x chromosomes. Resulting in a total of 47 chromosomes per cell. Downs syndrome An error during anaphase causes problems like trisomy 21 when there is 3 chromosomes for the chromosomes pair 21. Name two conditions /disease caused by gene mutation. Haemophilia Albinism Task 2 (B) Sickle cell anaemia Anaemia Anaemia is a lack of blood cells which is a common symptom of sickle cell anaemia. The abnormal cells have shorter life-span and are not replaced quickly enough. Symptoms include Fatigue which is feeling tired all the time and having a lack…show more content…
Jaundice occurs because the rapid breakdown of abnormal red blood cells leads to a build up of a waste product in the body called bilirubin.The build up of bilirubin often leads to the formation of small crystal ducts called gallstones. Most gallstones do not cause symptoms but occasionally they can block the bile duct which drains bile from the liver into the bowel. This can trigger jaundice. Leg ulcer A leg ulcer can be painful it’s an open sore that develops on the lower leg, usually close to the ankle. Leg ulcers often develop after a skin infection or injury, such as a cut or puncture wound. Children with sickle cell anaemia have an increased risk of developing leg ulcers this is due to the lack of normal blood cells. Which means their leg does not receive the nutrients it needs to keep skin and surrounding tissue healthy. Delayed Growth Red blood cells provide the oxygen required for physical development. In sickle cell anemia, it is likely that a child will experience delayed growth compared with other children. Children will also experience puberty at a later stage. Priapism Priapism is the medical term for a persistent and painful erection of the penis. Episodes of priapism can last for several hours. It can affect boys and men because abnormal blood cells can cause blood to become trapped in the

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