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Doctor insights on: Fragile X Syndrome Genetics Birth Defects

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Whats the genetic cause of fragile x syndrome?

Whats the genetic cause of fragile x syndrome?

Defective gene: It is an anomaly in the long arm of the x chromosome. Full mutations of the gene cause the fragile x syndrome. ...Read more

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Genetic (Definition)

From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more


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What age does fragile x syndrome show up?

What age does fragile x syndrome show up?

Birth: You can be suspicious at birth. Here is some information: http://www.fragilex.org/fragile-x-associated-disorders/fragile-x-syndrome/ ...Read more

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Do people with fragile x syndrome have normal lives?

Do people with fragile x syndrome have normal lives?

Of course: But then again who among us can claim to have a normal life? Men and women with fragile x syndrome can be, just like the rest of us, happy or unhappy, fulfilled or frustrated, sick or well, socially busy or lonely, and all points in between. Many people with fragile x syndrome have limited capacity for advanced learning, and very few marry and/or have children. Learn more at http://www.Nfxf.Org/. ...Read more

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Fragile x syndrome questions? Do they look different?

Fragile x syndrome questions? Do they look different?

Yes: Most often mentioned features include relatively large head, thickened nasal ridge, large ears & dental crowding. ...Read more

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Please tell me, are people with fragile x syndrome tall?

Please tell me, are people with fragile x syndrome tall?

They can be: I have several patients with fragile x that are average height or taller. ...Read more

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My son was recently tested for fragile x syndrome. What is accuracy?

My son was recently tested for fragile x syndrome. What is accuracy?

Very high: Fragile x is a problem found on the x chromosome, so it is inherited from the mother. Something called karyotyping is often done first, where the chromosomes are looked at under a microscope to see if they look normal. This is usually followed by dna testing that is very accurate. If the dna test is positive, it's positive. ...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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Can you tell me things to keep in mind about fragile x syndrome?

Fragile X: Fragile X syndrome is the leading known inherited cause of intellectual disability, and leading known genetic cause of autism and can cause developmental and language delays, learning impairment, and behavioral and mental health issues. Females who are carriers of the Fragile X gene mutation have a 50/50 chance of passing the mutation to each of their children. Other associated syndromes exist. ...Read more

Dr. Nikolaos Zacharias
833 doctors shared insights

Congenital Abnormalities (Definition)

Abnormalites that are present at birth. Also known as birth defects. For example- cleft palate is a congenital abnormalities. Another example congenital heart disease is the presence of a ...Read more


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