fragile x syndrome by Enrique Almeida Ruiz https://padlet.com/s80004/5p0865tjdhd6 Made with a little mischief en-us 2019-03-27 17:02:49 UTC 2025-10-28 05:56:17 UTC hello@padlet.com description s80004 https://padlet.com/s80004/5p0865tjdhd6/wish/345804777   Fragile x syndrome is a genetic condition, that mostly effects male mor e then females Affected individuals usually have delayed development of speech and language. Most males with fragile X syndrome have mild to moderate intellectual disability, while about one-third of affected females are intellectually disabled. Children with fragile X syndrome may also have anxiety and hyperactive behavior such as fidgeting or impulsive actions. They may have attention deficit disorder (ADD), which includes an impaired ability to maintain attention and difficulty focusing on specific tasks. About one-third of individuals with fragile X syndrome have features of autism spectrum disorders that affect communication and social interaction. Seizures occur in about 15 percent of males and about 5 percent of females with fragile X syndrome.]]> 2019-03-27 17:03:18 UTC https://padlet.com/s80004/5p0865tjdhd6/wish/345804777 frequancy s80004 https://padlet.com/s80004/5p0865tjdhd6/wish/345810277 Fragile X syndrome occurs in approximately 1 in 4,000 males and 1 in 8,000 females. or 0.025% or 0.050%in women.]]> 2019-03-27 17:14:48 UTC https://padlet.com/s80004/5p0865tjdhd6/wish/345810277 pattern of in heredity s80004 https://padlet.com/s80004/5p0865tjdhd6/wish/345810373 Fragile X syndrome is inherited in an x linked dominant pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the x chromosome, one of the two sex chromosomes. (The y chromosome is the other sex chromosome.) The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition. X-linked dominant means that in females (who have two X chromosomes), a mutation in one of the two copies of a gene in each cell is sufficient to cause the disorder.   In women, the fmr1 gene premutation on the X chromosome can expand to more than 200 CGG repeats in cells that develop into eggs. By contrast, the premutation in men does not expand to more than 200 repeats as it is passed to the next generation. ]]> 2019-03-27 17:15:00 UTC https://padlet.com/s80004/5p0865tjdhd6/wish/345810373 title box s80004 https://padlet.com/s80004/5p0865tjdhd6/wish/345815276 Pattern of heredity

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description]]> 2019-03-27 17:23:59 UTC https://padlet.com/s80004/5p0865tjdhd6/wish/345815276 Story of someone with fragile x syndrome s80004 https://padlet.com/s80004/5p0865tjdhd6/wish/345825433 While I spend my days working (very hard!) as a rabbi in a large Conservative congregation, I also spend more hours than I ever could have imagined at doctors’ appointments, specialist consultations, and school meetings. My days and my nights are devoted to fragile x advocacy, awareness, and fundraising.

Like any parent, I want to give my child the best of everything I can, and like every parent, I meet challenges along the way. I find great blessing, however, in the work that my son’s condition has propelled me toward, and I am so grateful that this “gift” of a genetic mutation has united my family and friends and helped us to create a worldwide village of support.

Fragile X syndrome is caused by a mutation on the X-chromosome. It is the leading cause of inherited intellectual disability. Every child with Fragile X has different issues – many haveautsim as well (and it seems there may be a link between Fragile X and autism).

Our son is able to speak in three to four word sentences, while many children are non-verbal even into adulthood. Our son is very sensitive to new people and loud noises, and is generally quite anxious in new situations. He is learning and developmentally delayed in most areas, though he is very bright and seems to be more skilled on the iPad than I am! Yes, despite his challenges, we are very proud of our son.


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