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Doctor insights on: Fragile X Baby

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Fragile x syndrome my baby, what to do?

Fragile x syndrome my baby, what to do?

Developmental help: Fragile X syndrome can predispose your baby to developmental and learning issues. It is important to have your baby evaluated by Early Intervention, a program to support infants with delays. Call your doctor to get this information. ...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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How do you treat fragile x syndrome in a child?

How do you treat fragile x syndrome in a child?

Careful behavior mgt: Careful and supportive behavioral management. there is some data suggesting treatment with folic acid may help avoid the behavioral manifestations that may develop. ...Read more

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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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If my grandmother and my mom are carriers for fragile x syndrome and both have had a child that had it could i be at risk of being a carrier.?

If  my grandmother and my mom are carriers for fragile x syndrome and both have had a child that had it could i be at risk of being a carrier.?

Yes: You get one normal x chromosome from your unaffected dad & one ?X from your carrier mom. Your mom has a 50% risk of passing the carrier state to you. You can have your chromosomes studied to see if you are a carrier.Consultation with a geneticist may be a option if you have other questions. Your pcp may be able to order a fragile x study for you but it is usually sent out to a specialty lab. ...Read more

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My daughter is pregnant and the father has "fragile x syndrome" so what are risks for baby?

My daughter is pregnant and the father has "fragile x syndrome" so what are risks for baby?

Depends: He can only pass the fragile x to a daughter, 100% of which would be carriers and might have minor learning problems.They could then pass the fragile x to their male offspring. If the baby is male he would be unaffected since they got the Y from dad. ...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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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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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?

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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How does freidreich's ataxia differ from fragile x?

How does freidreich's ataxia differ from fragile x?

Completely different: These are completely different diseases. Both are genetic diseases. Freidreich's ataxia is an autosomal recessive abnormality of the fxn gene causing neurological disease, cardiomyopathy, and diabetes. Fragile x is an x-linked disorder causing mental retardation and autism. ...Read more