SYMPTOMS Fragile X Chromosome WHAT IS THE FRAGILE X SYNDROME? Maeberly Daniel Faculty Mentor: David Sigmon FSC Pre-med B Inheritance Pattern   Fragile X syndrome is inherited in an X-linked dominant pattern. Women have a 50% chance of passing fragile X mutation onto their child (sons or daughters), with each pregnancy Since boys have only one X chromosome, they have more chance of being affected, while girls have less chance WHAT IS THE FRAGILE X SYNDROME? A genetic condition that causes a range of developmental problems including learning and intellectual disabilities and cognitive impairment. It results from a change, or mutation, in a single gene. (Passed from generation to generation) SYMPTOMS Intelligence & Learning: Syndrome affects ability to think, reason, and learn Physical: Narrow face, large head, large ears, flexible joints, flat feet These features are not apparent at first, they start to become more obvious after puberty and with age. Behavioral, Social, & Emotional: Afraid & anxious in new situations Trouble making eye contact Speech & Language: Girls do not have severe problems with speech and language whereas boys have more trouble speaking clearly, stutter, leave words out. Some people with Fragile X syndrome begin talking later than typical developing children or they might stay nonverbal throughout their lives Sensory: Bothered by bright light, loud noises (Causes them to act out in or display behavior problems)  Diagnosis While there is currently no cure for Fragile X syndrome (FXS), there are many areas of treatment and intervention that can improve the lives of affected individuals and their families. Given the proper education, therapy, and support, all persons with FXS can make progress. Early intervention is the most important because a child’s brain at a young age is still forming. If FSX is spotted early… it gives the child the greatest chance of developing a full range of skills. There’s more opportunity for learning Diagnosis Health care providers often use blood samples to diagnose Fragile X. The blood sample will be sent to a lab; this will determine what form of FMR1 gene is present. FMR1, which stands for Fragile X Mental Retardation 1, is a human gene that codes for a protein. The address of the FMR1 gene is Xq27.3 - -The Fragile X gene is only carried on an X chromosome; both males and females may transmit a Fragile X (FMR1) gene on their X chromosome so either a man or a woman may be a carrier.