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Doctor insights on: Fragile X Syndrome In Girls

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Does anybody have a female child with fragile x syndrome?

Does anybody have a female child with fragile x syndrome?

Variable symptoms: The fragile x is usually passed through apparently asymptomatic carrier mothers who have a normally functioning x to cancel out the information of the altered x. Detailed evaluation of some of these females has shown subtle deficiencies in some learning parameters, giving us an understanding that girls may show partial expression of the abnormality, but never to the degree of the male. ...Read more

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Dr. Barbara Trommer
129 doctors shared insights

Fragile X Syndrome (Definition)

A genetic disorder where there is a mutation of the fragile X mental retardation 1 (FMR1) gene on the X chromosome. Affected individuals may have large ...Read more


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What is fragile x syndrome?

What is fragile x syndrome?

Defective chromosome: Each person has 23 pair of chromosomes. Males have xy and females xx. Some persons have a defective x with a portion that is missing. In females the other x compensates and they have no clinical problems. In males the defective x can result in retardation and/or autism. Some with defect can be normal but transfer problems to their sons. ...Read more

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What causes fragile x syndrome?

Chromosome defect: Patients with fragile x have a defective x chromosome. There are several variants, and not all cells may be affected. It is full disease only in males, but females can be carriers. It is a genetic disorder, but it often just occurs without warning. Affected boys can vary from normal to severe retardation and autism. There is no cure. ...Read more

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What causes of fragile x syndrome?

What causes of fragile x syndrome?

Gene mutation: Fragile x syndrome is due to a mutation within the fmr1 gene on x chromosome. Part of the gene gets repeated too many times. It is the most common genetic cause of intellectual disability. Please see: http://www.Ncbi.Nlm.Nih.Gov/pubmedhealth/pmh0002633/ and http://www.Fragilex.Org/ for more information. ...Read more

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How prevalent is fragile x syndrome?

How prevalent is fragile x syndrome?

See below: Fragile x syndrome is the most frequent form of inherited intellectual disability. The prevalence in men runs from 1 in 4, 000 to 1 in 6.000. The prevalence in women is estimated at 1 in 10.000. ...Read more

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Is Fragile X Syndrome fatal?

Is Fragile X Syndrome fatal?

Fragile X: per say is not fatal. Males are more likely to be accident prone and suffer seizures than females. The risk of seizures is 17-40% depending on the series studied. (Much higher than this in my series of patients) Ataxia, hypotonia and unpredictable responses to changes in environment can lead to accidents. But the disease itself is not fatal. ...Read more

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Fragile x syndrome, is it preventable, how?

Not preventable: while there is no way to prevent fragile X disorder, treatment with folic acid, a vitamin can be helpful with the behaviours if necessary. Behavioral therapy, applied behavioral analysis, A variety of medications are available for symptoms. You should consult a specialist working with children with Fragile X. ...Read more

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Is fragile x syndrome dominant or recessive?

Is fragile x syndrome dominant or recessive?

X linked: This syndrome emerges when a male has a fragile x from his asymptomatic mother and a y from his father. If he were she, a normal x from dad or mom would cancel the fragile x effect. ...Read more

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Cow can I tell if a teen has fragile x syndrome?

Variety of symptoms: Males more affected than females and more apparent physically. Long face, protruding ears. Intelligence is effected, shyness, poor eye contact, and symptoms of autism. ...Read more

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Cow could i tell if someone has fragile x syndrome?

Cow could i tell if someone has fragile x syndrome?

Genetic Testing: Many infants and children with fragile x have no distinct physical features. As teens characteristics can develop such as a longer face/jaw and larger, more noticeable ears. Most do not grow as tall as their peers, tend to have hyperflexible joints. Many people with fragile x have impaired intellectual functioning. Definitive diagnosis is made with genetic testing (usually a blood test). ...Read more

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What's the life expectancy of a person with fragile x syndrome?

What's the life expectancy of a person with fragile x syndrome?

Normal unless: Most patients with fragile x are otherwise normal except for mild learning and behavioral problems. Occasional cases may suffer seizures and some can have other medical problems. The life expectancy is based on the other medical problems - not the diagnosis of fragile x. ...Read more

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What is the history behind recognition of the fragile x syndrome?

What is the history behind recognition of the fragile x syndrome?

1943: First noted in 1943 an x-linked pedigree with enlarged testicles. Chromosome defect described in 1969. Name of defect was coined in 1970. ...Read more

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What are the phenotypes for fragile-x syndrome and down syndrome?

What are the phenotypes for fragile-x syndrome and down syndrome?

Fragile x syndrome: Fragile x syndrome is x linked dominant condition.It does not follow usual pattern of inheritance for x linked male carriers pass their premutations to all their daughters.Male cwith full mutation can pass premutation to all their daughters. The females with full mutation are able to pass full mutation on, so therotically there is 50% chance that a child will be affected.Iam sorry but it is littl. ...Read more

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What are ther any support groups in israel for fragile x syndrome?

What are ther any support groups in israel for fragile x syndrome?

קבוצת תמיכה : Check for contacts in Israel on these pages: http://www.fragilexawareness.com/international-fragilex-websites *AND* http://www.fragilex.org/community/international-family-support-network-clinics ...Read more

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Is fragile x syndrome the same degree of retardation as down syndrome?

Is fragile x syndrome the same degree of retardation as down syndrome?

Variable: They are both "genetic" conditions but they are different in the spectrum of issues they present-. People with fragile x may have subtle cognitive impairments all depending on how affected the fmr1 gene is. People with downs have an extra chromosome and kids have delayed cognition as well as physical growth and frequently heart problems.. They both may exhibit autistic traits, more so fagile x. ...Read more

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What are the differences between fragile x syndrome and down syndrome?

What are the differences between fragile x syndrome and down syndrome?

Different chromosome: Fragile x is a condition created when an abnormality in a faulty x chromosome is allowed to interfere with the cells in the body. In females, their other x prevents most problems while males with a y cannot block the abnormality. Down syndrome has a whole or extra piece of a 21 chromosome in every cell which interferes with normal cell function. ...Read more

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What to do if I have a 22 year old son with fragile x syndrome.I was told that they are developing a drug that either cures?

Specialist: It depends upon what the symptoms are. Some people with this suffer from developmental, intellectual and emotional issuesthis is caused by the effects of the chromosomal abnormalities. There may eventually be medications that help the symptoms, but I am not aware of a cure as of yet. Seeing a specialist for these issues to develop a plan of therapy would be wise. ...Read more

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What is a fragile x syndrome?

Genetic problem: Fragile x syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females. http://ghr.nlm.nih.gov/condition/fragile-x-syndrome. ...Read more

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Whats the cause of fragile x syndrome?

Whats the cause of fragile x syndrome?

Genetic: Fragile x is caused by just one defective gene. This gene also known as fmr1, shuts it self down and fails to produce a protein. The incidence is 1 in 4000 males and 1 in 6-8000 females have it is the most common cause of inherited mental disability-. ...Read more