Thursday, May 5, 2016
Inherited Disorders and Birth Defects
Chromosome 9 and 14 - is there a relation?
We are two sisters. The yougest sister has two boys with Friedreich`s ataxia. I have a daughter with an extra chromosome at the 14. Is there any relationship the the genitic history to these two problems?
I am not aware of any connection between these two problems. Your daughter has a problem with chromosome 14 and Friedreich's ataxia is located on a different chromosome.
Friedreich's ataxia is a genetic disease caused by a change (mutation) in a gene called FXN that is on chromosome 9. It is inherited in an autosomal recessive manner. What this means is that both parents are carriers (each parent has one normal form of the gene and one form that causes the disease) and have a 25% chance with each pregnancy of both passing the mutated gene on at the same time and having an affected child.
However, it would still be important to sit down and discuss your family history with a geneticist or genetic counselor if you have not already done so. If you plan to have more children or you have other children, I would recommend that you discuss these issues to see if you or your family may be at an increased risk to have other children with the same problems.
You can locate a genetics center near you by going to the National Society of Genetic Counselors Resource Center at the website below.
Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University