Why does fragile x syndrome occur

The agreed upon prevalence of FXS:. Intellectual disabilities in FXS include a range from moderate learning disabilities to more severe intellectual disabilities. The majority of males with Fragile X syndrome demonstrate significant intellectual disability. No one individual will have all the features of FXS, and some features, such as a long face and macroorchidism, are more common after puberty.

A small percentage of females who have the full mutation of the FMR1 gene that causes FXS will have no apparent signs of the condition—intellectual, behavioral, or physical. These females are often identified only after another family member has been diagnosed. Symptoms include intellectual disability, behavioral and learning challenges, and various physical characteristics. Early intervention services help children from birth to 3 years old 36 months learn important skills.

Even if the child has not been diagnosed with FXS, they may be eligible for services. These services are provided through an early intervention system in each state. Through this system, you can ask for an evaluation. In addition, treatment for particular symptoms, such as speech therapy for language delays, often does not need to wait for a formal diagnosis. While early intervention is extremely important, treatment services at any age can be helpful.

Learn more about early intervention » external icon. Local public school systems can provide services and support for children age 3 years and older. Children can access some services even if they do not attend public school. States have created parent centers. These centers help families learn how and where to have their children evaluated and how to find services. Having support and community resources can help increase confidence in managing FXS, enhance quality of life, and assist in meeting the needs of all family members.

A genetics counsellor can also provide information about the range of reproductive options that are now available. Clinics in Victoria are located in metropolitan Melbourne and major regional centres. This page has been produced in consultation with and approved by:. During fetal development, the diaphragm or abdominal wall may fail to properly fuse, allowing the abdominal organs to protrude. The characteristic features of Angelman syndrome are not always obvious at birth, but develop during childhood.

ASD is a complex disorder that affects a person's ability to interact with the world around them. The cause of birth defects is often unknown, speak to your GP if you are at increased risk of having a baby with a congenital anomaly.

Latest research suggests that most cancers are caused by environmental rather than genetic factors. Content on this website is provided for information purposes only. Information about a therapy, service, product or treatment does not in any way endorse or support such therapy, service, product or treatment and is not intended to replace advice from your doctor or other registered health professional.

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The State of Victoria and the Department of Health shall not bear any liability for reliance by any user on the materials contained on this website. Skip to main content. Genetic conditions. Home Genetic conditions. Fragile X syndrome. Most people with Fragile X are not yet diagnosed. Her children will either be carriers or they will have Fragile X syndrome.

Carrier men will pass the premutation to all their daughters but none of their sons. These daughters are carriers but they do not have Fragile X syndrome. The Fragile X premutation can be passed silently down through generations in a family before a child is born with the syndrome. Each cell in the body contains forty-six twenty-three pairs of chromosomes.

These chromosomes consist of genetic material DNA necessary for the production of proteins which lead to growth, development and physical and intellectual characteristics. The first twenty-two pairs of chromosomes are the same in males and females. The remaining two chromosomes, X and Y, determine whether a person is male or female.