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Tuesday, June 18, 2013
Inherited Disorders and Birth Defects
Is my family crazy, or do we all have
I am writing to you due to the recent diagnosis of my youngest son with autism. He is also being tested for Fragile X. The more I read the more I believe my entire family has Fragile X. The moods, physical characteristics, etc. My question is: Is a physical deformity, ie. no fingers on a hand, related at all to the Fragile X s/s, or is a charactistic of any genetic disorder?
The abnormality you are asking about, no fingers on a hand, is not associated with Fragile X syndrome. Someone with Fragile X could have an additional isolated birth defect such as missing fingers. However, there is no information that says these two things are related.
If you have not already done so, I would recommend you talk to a geneticist or a genetic counselor regarding Fragile X. It is a very complex disorder and the inheritance is also very complex. You can ask your doctor for a referral or you can locate a genetics clinic near you at the National Society of Genetic Counselors’ Resource center - the web site is below.
Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University