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Marfan syndrome is a genetic disorder that affects the bodyâs connective tissue. Connective tissue holds all the bodyâs cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly.Connective tissue is made up of proteins.The protein that plays a role in Marfan syndrome is called fibrillin-1. Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1.This mutation results in an increase in a protein called transforming growth factor beta, or TGF-Î².he protein that plays a role in Marfan syndrome is called fibrillin-1. Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1.
Who Discovered Down Syndrome. Down syndrome is a chromosomal disorder that produces a set of mental and physical symptoms. It is caused by an extra copy of chromosome 21. In a person with Down syndrome there are three copies of the chromosome 21, one from the father, one from the mother and a third copy.The extra copy of this chromosome changes the development of the brain and body.Down syndrome affects about 1 in every 800 babies.r Down could not identify what caused the condition and it was not until 1959 that a Professor named Jerome JÃ©rome lejeune discovered That down syndrome was caused by a chromosomal. Irregularity he found that in people With down syndrome an extra chromosome was. present