Doctor insights on:
Fragile X Chromosome
Yes: Cytogenetic examination is one way of making the diagnosis. ...Read more
Excellent! : Fish tests for abnormal x chromosomes are widely available and highly accurate. ...Read more
Can you tell me what you suggest if you are a carrier of fragile x, will your son have higher chances of down syndrome?
Mental retardation: Mental retardation, autistic behavior, large testicles, long face, and large ears. Mainly seen in boys (but inherited from mother). Diagnosed by a blood test. There is an expanded dna segment called a trinucleotide repeat. This expanded dna segment is located on the x chromosome. ...Read moreSee 2 more doctor answers
Delay: Fragile x syndrome is one of the most common reasons for inherited developmental delays in boys. Fragile x patients can be identified thru genetic testing and how they might look on physical exam. Such delays can be seen in lots of kids without a diagnosis of fragile x. So that means that boys w/developmental delays can't be labeled as fragile x, w/o genetic test confirmation. ...Read moreSee 1 more doctor answer
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
Unknown: Because autism is so common, we do not know whether this is cause or effect. I have treated fragile x in the same way as other kids who are autistic. There is some basic science info that suggests that the fragile chromosome is lacking in folate and we know that autistic kids cannot use folate and have to be given folinic acid to get around this. A lot more research is needed. ...Read more
A genetic disorder: Both males and females have an X chromosome (girls have two, boys have one and one Y chromosome). Fragile X is a genetic problem that causes a range of developmental issues, including learning disabilities. Males are more severely affected because they only have one copy of the X chromosome. They can have symptoms that resemble attention deficit disorder or learning issues. ...Read more
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