Understanding Fragile X Syndrome

Information and facts on families, patients, and health care providers of vulnerable X related diseases. General degree of fragility X Fragile X syndrome is the most common genetic cause of mental retardation and is also the most common cause of autism. Vulnerability X affects one out of 4,000 men and one out of 6,000 women. A woman possesses fragile X at a rate of one in 259 people. Vulnerable X exists at a rate of 1 in 800 people. Vulnerable X-related tremor / Atacia syndrome (FXTAS) and primary ovarian dysfunction.

Fragile X syndrome is the most common mental disorder affected by one out of 4,000 boys in the United States and one out of 6,000 to 8,000 girls (CDC, 2015 f). It is caused by a mutation in the gene on the X chromosome. Fragile X syndrome can cause learning disabilities, language and language delay, ADHD and anxiety (CDC, 2015 f). Fragile X syndrome can not be cured, but early intervention is very beneficial for children and families affected by this syndrome. Down's syndrome is another genetic disorder with an extra copy of chromosome 21 rather than a typical two copies (Leahy, Fuzy & Grafe, 2013). People with Down Syndrome usually have large physical features such as small skull, flat nose, short fingers, the first two digits of hands and feet wide (Leahy, Fuzy, Grafe). Different levels of tongue mental retardation

Introduction Fragile X syndrome is the most common cause of hereditary mental retardation, with one in about 1,200 men and one in 2,500 men. Men with fragile X syndrome usually have mental retardation and often exhibit distinctive physical features and behaviors. Affected women show a similar, but less severe phenotype. Diagnosis of Fragile X syndrome was based on the expression of folate sensitive fragile site (FRAXA) of Xq 27.3 originally induced in cell culture under folate deficiency conditions. Cytogenetic analysis of metaphase spreads indicated that less than 60% of the most affected individuals had fragile sites. Cytogenetic testing has limitations, especially when it detects the state of the vector exhibiting a high degree of variability between the individual and the laboratory.