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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
128 doctors shared insights

Fragile X Syndrome (Definition)

Fragile X syndrome is a genetic condition that is a cause of mental retardation and autism. It is more common in boys because the abnormal chromosome is the X chromosome, of which males only have one copy. Other characteristics include large ears, large testicles after puberty, ...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?

I'll use the the FXS: Association data from 2011. 1:3600-4000 boys & 1:4000-6000 girls, because not all girls with the full mutation have fragile x syndrome. It is the most common inherited cause of intellectual disability in males. ...Read more

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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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