https://padlet.com/sergio_rodriguezflores/iogdu34h9fbo Understanding Fragle X syndrome en-us 2016-09-19 01:57:32 UTC 2025-11-05 07:17:27 UTC hello@padlet.com https://padlet-assets.s3.amazonaws.com/icons/Diskette.png sergio_rodriguezflores https://padlet.com/sergio_rodriguezflores/iogdu34h9fbo/wish/124616197 There is no cure for fragile x syndrome currently however many treatments exists to help those affected by the disorder and significantly improve their lives. Affected people usually receive treatment at a young age in form of special education, therapy, and support throughout the length of childhood to adulthood. These treatments help fragile X syndrome affected people receive the proper education they need, as well as helping them become more independent. But people suffering from fragile X syndrome must receive help through their whole lives.

]]> 2016-09-19 02:51:06 UTC https://padlet.com/sergio_rodriguezflores/iogdu34h9fbo/wish/124616197 sergio_rodriguezflores https://padlet.com/sergio_rodriguezflores/iogdu34h9fbo/wish/124616292 The syndrome known as fragile X is the most recurring form of genetic inherited intellectual disability. Fragile X syndrome is a sex linked dominant chromosome mutation disorder affecting males more severly than females. Fragile X syndrome occurs in all ethnic groups, but because males only have one X chromosome it affects 1 in every 4,000 males, and 1 in every 8,000 females. Females have two X chromosomes resulting in a less chance of fragile X syndrome to affect the person, even with the mutation. Males are more severely affected by fragile X syndrome as it is specifically a sex linked trait, attacking the only X chromosome men inherit. Females on the other hand have two X chromosomes. Even if only one X is affected then the healthy X chromosome will cover for the other mutated X chromosome. The female with at least one mutated X chromosome immediately becomes a carrier of the mutation. Fragile X syndrome occurs as a result of a mutation located in the FMR1 gene region where the CGG triplet  DNA segment is expanded more than 200 times. Normally the CGG triplet DNA segment repeats 5 to 40 times. And as a result of the CGG expansion it ultimately it leaves the FMR1 gene neutral in a loss of the fragile X mental retardation protein, which is essential for regular cognitive function. The FMR1 protein is responsible for developing synapse connections among neurons.

Picture illustrating fragile X syndrome inheretance.

]]> 2016-09-19 02:52:13 UTC https://padlet.com/sergio_rodriguezflores/iogdu34h9fbo/wish/124616292 sergio_rodriguezflores https://padlet.com/sergio_rodriguezflores/iogdu34h9fbo/wish/124616366  It is very hard to determine if an infant male or  female may have fragile X syndrome with the only other symptom being having a large head circumference, w, large chin, forehead, . However specific gene testing can also determine if there is an expanded FMR1 DNA segment.

]]> 2016-09-19 02:52:59 UTC https://padlet.com/sergio_rodriguezflores/iogdu34h9fbo/wish/124616366 sergio_rodriguezflores https://padlet.com/sergio_rodriguezflores/iogdu34h9fbo/wish/124616438 Fragile X syndrome affects males and females differently but with similar symptoms. Male children with fragile X syndrome show moderate intellectual disability accompanied by a series of other physical features resulting from fragile X syndrome.  These features are characterized by a large head, chin and forehead, and a long face and protruding ears. Males also develop loose joints, eye, orthopedic, heart and skin problems, and large testicles after puberty. Male children with fragile X syndrome also show various behavioral symptoms. These behavior symptoms are hyperactivity, hand flapping as well as hand biting, and temper tantrums. Fragile X syndrome also branches of to develop autism disorder and ADHD in some cases. Female children as well as female adults show symptoms of mild intellectual ability and adults develop premature menopause or difficulty getting pregnant.

Ryan graduating high school and affected by fragile X syndrome.]]> 2016-09-19 02:53:49 UTC https://padlet.com/sergio_rodriguezflores/iogdu34h9fbo/wish/124616438 sergio_rodriguezflores https://padlet.com/sergio_rodriguezflores/iogdu34h9fbo/wish/124616507 Fragile x syndrome is the most common form of inherited mental retardation and was first recorded in 1943 by James Burton Martin and Juliana Bell. With the discovery of this new disorder, ways of detecting it were still at their infancy. In 1969 Herbert Lubs developed a chromosomal test for this specific abnormality that was not used until late 1970’s. However it wasn't until 1991 where scientists pinpointed the direct cause of what was soon to be infamously called Fragile X syndrome. Fragile X syndrome is most synonymous with causing developmental problems such as learning disabilities and cognitive impairment. Fragile X syndrome may also branch out to cause ADHD, and Autism. Other names for fragile X syndrome are  Martin Bell Syndrome,  Escalante Syndrome,  FRAXA Syndrome,  FXS,  Marker X syndrome,  and X-linked mental retardation and macroorchidism.

Image highlighting the fragile area of the X chromosome.

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