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Genetics  (Expert Forum)
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mthfr gene
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AccessDNA
Welcome to the Genetics Forum! Questions in the Genetics Forum are being answered by genetic experts from AccessDNA. This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Ashkenazi Jewish Diseases, Bleeding Disorders, Blood Clotting Disorders, Cancer Genetics and Hereditary Cancer Syndromes, Chromosome Abnormalities, Congenital Birth Defects, Cystic Fibrosis, Family History, Fragile X Syndrome, Infertility, Newborn Screening, Rare Genetic Disorders, Prenatal Screening and Testing. This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Alzheimer’s Disease, Blood-clotting Disorders, Breast Cancer, Cystic Fibrosis, Diabetes, Marfan Syndrome, Ehlers-Danlos Syndrome, etc.

mthfr gene

by mary271960, Oct 14, 2009 10:46PM
I have quite a few cousins and nephews who are mentally retarded.  Three of my mothers sisters have had mentally retarded children and some of their daughters have had mentally retarded children.  I also have a sister with a mentally retarted child.  All the retarded children are male.  We also have a family history of colon disease, stroke, scoliosis.  Three of my cousins tested positive for this gene.  Should the rest of our family be tested.  Is this a rare occurance???  

Thanks

by Jordanna Joaquina, MS, CGC, Oct 29, 2009 02:26PM
To: mary271960
We recommend that you meet with a genetic counselor regarding your family history of mental retardation and other conditions. There are genetic causes of mental retardation. The most common inherited cause of mental retardation called Fragile X syndrome occurs more frequently in males. A genetic counselor can take a detailed personal and family history in order to provide specific risk assessment for mental retardation, colon disease, stroke, scoliosis and MTHFR in the family. Specific MTHFR variations are relatively common in Caucasians of European ancestry. A family history of multiple generations of males with mental retardation is not common. A genetic counselor can discuss the benefits and limitations of your genetic testing options as well.

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