Why called fragile x

It is estimated that 1 in women and 1 in men are carriers of the gene. These people are known as 'Fragile X pre-mutation carriers'. Pre-mutation carriers may not have any symptoms of Fragile X syndrome but they are at risk of passing on the changed FMR1 gene and having a child or grandchild with Fragile X syndrome.

People who are Fragile X pre-mutation carriers may also be at risk of developing health problems later in life. Around 20 per cent of female Fragile X pre-mutation carriers experience reduced fertility or early menopause.

These conditions are called Fragile X-associated Disorders. Fragile X syndrome and Fragile X-associated disorders can only be diagnosed by DNA testing — usually by a blood test but sometimes via cheek swab or mouthwash. If possible, testing should be done at a recognised genetics service. If there is a diagnosis of Fragile X syndrome, it is important that immediate and extended family members are also tested to identify others who may have the changed FMR1 gene.

This is called cascade testing. DNA testing is recommended for:. Unfortunately diagnosis of Fragile X syndrome is often delayed and it is not uncommon for families to have had a second child born with Fragile X syndrome before the first child has been diagnosed. A prompt diagnosis of Fragile X syndrome is important so that families can get access to appropriate early intervention services to help their child reach their full potential.

The facts about Fragile X syndrome are complicated and the ramifications for families can be serious. It is recommended that parents and family members ask their doctor to refer them to a genetics service, both for testing and follow-up counselling. Genetic counsellors are health professionals qualified in both counselling and genetics. As well as providing emotional support, they can help you to understand Fragile X syndrome and what causes it, how it is inherited, and what a diagnosis means for your child's health and development, and for your family.

Genetic counsellors are trained to provide information and support that is sensitive to your family circumstances, culture and beliefs. 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.

Fragile X syndrome FXS is a genetic condition that causes intellectual disability, behavioral and learning challenges, and various physical characteristics.

Though FXS occurs in both genders, males are more frequently affected than females, and generally with greater severity. Life expectancy is not affected in people with FXS because there are usually no life-threatening health concerns associated with the condition. There have been a number of studies aimed at determining the prevalence of FXS in males and females.

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. Their sons receive a Y chromosome, which does not include the FMR1 gene. Genetics Home Reference has merged with MedlinePlus.

Learn more. The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health. Fragile X syndrome. From Genetics Home Reference.

Description Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Frequency Fragile X syndrome occurs in approximately 1 in 4, males and 1 in 8, females. Inheritance Fragile X syndrome is inherited in an X-linked dominant pattern. Research Studies from ClinicalTrials.

Annotation: Deconstructing the attention deficit in fragile X syndrome: a developmental neuropsychological approach. J Child Psychol Psychiatry. Nat Rev Dis Primers. FMR1 Disorders. Lancet Neurol. Neuroanatomical, molecular genetic, and behavioral correlates of fragile X syndrome. Brain Res Rev. Epub Jul Fragile X syndrome and associated disorders: Clinical aspects and pathology.