Doctor insights on:
Fragile X Baby
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
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 moreSee 1 more doctor answer
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
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
Excellent! : Fish tests for abnormal x chromosomes are widely available and highly accurate. ...Read more
Used to neglect kids with mild retardation in small towns. Now many have fragile x. What happened to those who were undiagnosed?
Undertreated: Unfortunately, they weren't appropriately treated. As diagnosis has improved, so has treatment. ...Read more
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 moreSee 1 more doctor answer
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 moreSee 1 more doctor answer
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
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 moreSee 1 more doctor answer
Can you tell me what you suggest if you are a carrier of fragile x, will your son have higher chances of down syndrome?
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 moreSee 1 more doctor answer
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