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Genetic Syndromes A syndrome is a disease or problem that has more than one identifying feature or symptom. Each particular genetic syndrome will have many typical features, based on which factors are affected by the abnormal genes or chromosomes. A child might be born with obvious body deformities, abnormal organ function (for example: when a baby’s body is floppy or the baby is unable to nurse or bottle feed). However, many of the genetic syndromes start to take effect only once the baby has been born and is starting to feed and grow. These babies may look and act entirely normal at birth, but then develop problems later on in life. What causes genetic disorders? Each cell in the human body contains 23 pairs of chromosomes. You inherit one set of the pair from your father and one set from your mother. Each chromosome is made up of many genetics, about 2,000 in each chromosome, for a total of 50,000 genes in each cell. These genes make all the proteins in the body, which promote development and growth, and carry out all body functions. When one or more of these genetics or chromosomes are missing or mutated, or if extra chromosomes are present, the proteins may not get made, may not get made, Any of these situations can cause abnormal development and growth and can result in a genetic syndrome. Sometimes these abnormal genes or chromosomes are passed down from a parent, and sometimes they occur spontaneously without reason. Genetic syndromes and heart complications in children Children with certain genetic conditions, such as Down syndrome, sometimes also have heart problems. Genetic syndromes with related heart conditions include: Down syndrome: Children with Down syndrome (also known as Trisomy) have an extra copy of their 21st chromosome. About half of children with Down syndrome also have a congenital heart condition, the most common being atrial-ventricular septal defects and atrial septal problems. Turner syndrome: Turner syndrome solely affects girls. It happens when a girl is born with only one X chromosome (XO instead of the usual XY). Twenty percent of girls with Turner syndrome are born with a congenital heart condition. Coarctation of the aorta is the most common heart problem associated with this genetic condition. DiGeorge syndrome: DiGeorge syndrome is a genetic situation that may also affect the immune system. Many children with DiGeorge syndrome often have abnormalities of the heart. These abnormalities are often seen in a newborn infant with cyanosis (a blue tint to their skin). William syndrome: Children with William syndrome (also known as elfin facies syndrome) may have a defect in the elastin gene. They have distinctive facial features and a very social personality, but commonly also have obstruction to the pulmonary arteries or the aorta that can cause heart and blood vessel problems. Marfan syndrome: Marfan problem is known as a connective tissue disease. Connective tissues holds the cells of the body together, much like mortar maintains bricks together in a building. Children with Marfan syndrome are born with a genetic abnormality of the gene Fibrillin-1. Conclusion A syndrome is a disease or problem that has more than one identifying feature or symptom. Each particular genetic syndrome will have many typical features, based on which factors are affected by the abnormal genes or chromosomes. Author refers for Biology blog
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