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Doctor insights on: Fragile X Chromosome

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Is the blood draw for fragile x testing a chromosomes test?

Is the blood draw for fragile x testing a chromosomes test?

Yes: Cytogenetic examination is one way of making the diagnosis. ...Read more

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How do you test for fragile x?

How do you test for fragile x?

Blood: Cytogenetics and molecular techniques have been used to determine carrier status in fragile x. ...Read more

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What sort of disorder is having a fraxa (fragile x) mutation?

What sort of disorder is having a fraxa (fragile x) mutation?

Chrms dfct > on male: Fragile x is a term used for a fragile site(non-staining gap) on the long arm of the x when chms are studied. Since males have only one x, the defective one influences outcome, with mental deficiencies altered physical features.The kids mother has 2 x's, 1 fragile & 1 nl & usually the nl one prevents problems but not always.This is a male dominated form of significant mental deficiency. ...Read more

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Explain fragile x?

Explain fragile x?

Genetic condition: Fragile x syndrome is a genetic condition involving changes in part of the x chromosome. This is the most common form of inherited mental retardation in males. Changes in the chromosome alter the correct amount of protein in your brain. ...Read more

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What are the signs of fragile x among toddlers?

What are the signs of fragile x among toddlers?

Variable: Fragile X impairs intellectual functioning to a varying degree. Typical problems noted in children include hyperactivity, speech/language problems, learning disorders and anxiety. Many of these conditions overlap with normal developmental stages in toddlers, so it may be difficult to sort out at this early age. ...Read more

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Which symptoms would lead to fragile x testing?

Which symptoms would lead to fragile x testing?

Developmental delay: In infants and toddlers, developmental delays may warrant fragile x testing. ...Read more

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What kind of mental retardation does fragile x boy have?

What kind of mental retardation does fragile x boy have?

Same as nonFragile X: Mental retardation simply refers to overall cognitive delay. Fragile x is an identifiable genetic disorder that, in males, is associated with mild to moderate mr. Those with fragile x do have other unique features, but the mr really is not especially different from mr caused by other factors. ...Read more

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Were a lot of people with fragile x misdiagnosed in the past?

Were a lot of people with fragile x misdiagnosed in the past?

Fragile x: I think many things past and present can be misdiagnosed. Especially when genetics are involved. Research and technology making it better every year. This article may help. http://autismandoughtisms.wordpress.com/2011/08/04/genetic-origins-of-autism-when-is-autism-not-autism-fragile-x-and-rett-syndrome/. ...Read more

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Help! Is it possible to have fragile x and normal or superior iq?

Help! Is it possible to have fragile x and normal or superior iq?

Very unlikely: Adult males typically have an intelligence quotient (IQ) in the moderate intellectual disability range, but intellectual disability ranges from mild to severe. ...Read more

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Can you have a baby through surrogate if you are a fragile x carrier?

Can you have a baby through surrogate if you are a fragile x carrier?

Consult Geneticist: Get your best answer from a reproductive geneticist--but short answer is if you use a donor egg, then no problem. ...Read more

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Need help. Is 9 months too early to determine if my nephew has a problem such as fragile x?

Need help. Is 9 months too early to determine if my nephew has a problem such as fragile x?

Easy study: If you have a family history that raises this concern a cheek swab can be sent for the fragile x study.Access to the proper lab kit to obtain the swab can be arranged by your pcp or s/he can refer you to a location where this can be done.An evaluation by a clinical geneticist or developmental pediatrician may be more helpful in the long run & encompass a broader understanding of babies needs. ...Read more

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Can you tell me if I am a carrier of fragile x will my son have higher chances of down syndrome?

Can you tell me if I am a carrier of fragile x will my son have higher chances of down syndrome?

No, risk of both: If you or dad have a blood relative with Down, your risk at delivery is 1%. if none, at 37 the risk at term is 1/226, and before 14 weeks 1/52 (many affected die before term). Risk for a male with Fragile X is ½ males, and for a carrier female, ½ females. You may have CVS to determine both. If termination is not an option, you may have preimplantation diagnosis for both, or a donor egg. ...Read more

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Can you tell me what you suggest if you are a carrier of fragile x, will your son have higher chances of down syndrome?

Can you tell me what you suggest if you are a carrier of fragile x, will your son have higher chances of down syndrome?

Unrelated: Fragile x and down syndrome are unrelated conditions. Down syndrome is due to an extra copy of chromosome 21, most typically trisomy 21. Most cases of fragile x are due to a mutation of the fmr1 gene which is located on the x chromosome. ...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 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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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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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