Fragile X is a family of genetic conditions, which can impact individuals and families in various ways. These genetic conditions are related in that they are all caused by gene changes in the same gene, called the FMR1 gene.
Fragile X includes:
fragile X syndrome (FXS), the most common cause of inherited mental impairment. This impairment can range from learning disabilities to more severe cognitive or intellectual disabilities. (Sometimes referred to as mental retardation.) FXS is the most common known cause of autism or "autistic-like" behaviors. Symptoms also can include characteristic physical and behavioral features and delays in speech and language development.
fragile X-associated tremor/ataxia syndrome (FXTAS), a condition which affects balance, tremor and memory in some older male gene carriers.
fragile X-associated premature ovarian failure (POF), a problem with ovarian function which can lead to infertility and early menopause in some female gene carriers.
Some gene carriers do not exhibit any of these features. To learn more about carriers click here.
Fragile X can be passed on in a family by individuals who have no apparent signs of this genetic condition. In some families a number of family members appear to be affected, whereas in other families a newly diagnosed individual may be the first family member to exhibit symptoms.
The National Fragile X Foundation (NFXF) has been helping individuals with Fragile X, their families, and the professionals who work with them, since 1984. As research into Fragile X continues, our understanding of who it affects and how it affects them will grow. The NFXF is committed to keeping the Fragile X community well informed.
www.fragilex.org
What is Fragile X syndrome?
* Intelligence and learning – Many people with Fragile X have intellectual disabilities.
* Physical – Teens and adults with Fragile x may have long ears, faces, and jaws
* Social and Emotional – Most children with Fragile X have some behavior challenges
* Speech and Language – Most boys with Fragile X have some problems with speech and language.
* Sensory – Many children with Fragile X are bothered by certain sensations, such as bright light.
* Physical – Teens and adults with Fragile x may have long ears, faces, and jaws
* Social and Emotional – Most children with Fragile X have some behavior challenges
* Speech and Language – Most boys with Fragile X have some problems with speech and language.
* Sensory – Many children with Fragile X are bothered by certain sensations, such as bright light.
HOW IS FRAGILE X SYNDROME INHERITED?
The gene for Fragile X syndrome carried on the X chromosome. Because both males (XY) and females (XX) have at least one X chromosome, both can pass on the mutated gene to their children.If the mother has the altered gene for Fragile X she can pass that gene to either her sons or her daughters
If the mother has the mutated gene on one chromosome and has one normal X chromosome, and the father has no genetic mutations, all the children have a 50-50 change of inheriting the mutated gene.
TREATMENT OF FRAGILEX SYNDROME
Standart treatment includes specialeducation, speech, occupational, and sensory integration traning; and behavior modification program
TREATMENT OF FRAGILEX SYNDROME
Standart treatment includes specialeducation, speech, occupational, and sensory integration traning; and behavior modification program
DIAGNOSIS OF FRAGILE X SYNDROME
Fragile X syndrome was originally diagnosis by cultıring cells in a folete deficient medium and then assessing the cultures for X chromosome breakage by cytogenetic analysis of the long arm of the X chromosome also diagnosisFragile X syndrome is difficult to diagnose in children.
An affected infant may develop normally at first. After age one year, though, the child begins to have noticeable delays in language and short-term memory. Physical signs of Fragile X, such as the typical facial features, are only noticeable after the onset of puberty.
A blood test known as FMR1/DNA is used to confirm the diagnosis.
An affected infant may develop normally at first. After age one year, though, the child begins to have noticeable delays in language and short-term memory. Physical signs of Fragile X, such as the typical facial features, are only noticeable after the onset of puberty.
A blood test known as FMR1/DNA is used to confirm the diagnosis.
SYMPTOMS OF FRAGILE X SYNDROME
Some symptoms of fragile x syndrome below:
Larger ears
Large testes (macroorchidism)
Large jaw (prognathism)
The face is long and narrow
Speech delays
Prominent forehead
Larger ears
Large testes (macroorchidism)
Large jaw (prognathism)
The face is long and narrow
Speech delays
Prominent forehead
WHAT IS FRAGILE X SYNDROME?
Fragile X syndrome is the must common inherited from of mental retardation
It results from a chamge or mutation in a single gene
Symptoms of Fragile X syndrome occur because the mutated gene cannot produce enough of a protein that is needed by the body cell especially in the brain, to developed and normally.
This syndrome is the second most common identifiable cause of genetic mental retardation after Down syndrome
It results from a chamge or mutation in a single gene
Symptoms of Fragile X syndrome occur because the mutated gene cannot produce enough of a protein that is needed by the body cell especially in the brain, to developed and normally.
This syndrome is the second most common identifiable cause of genetic mental retardation after Down syndrome
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