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Wednesday, April 16, 2014
Inherited Disorders and Birth Defects
I have a BT 46,XY,t(4;6)(q31;p23). As I read up on this, a number of experts mention that the theoretical probability to have a healthy child does not hold in real life(50% prob. of having a child with a balanced Translocation and/or a normal set of chromosomes (46 XY or 46 XX, as the case may be). They mention that the true probability depends upon the type and length of the breakage, the chromosomes in question etc. Is there some place where I can get the true (real life) statistics for my case. I do understand that we are talking in terms of probabilities but I feel that 50% chance of having gives excessive hope where the actual chance of having a healthy child may be far less.
The best resource to obtain information about your specific chromosomal translocation is to speak to a genetic counselor or geneticist. This is an area of expertise for geneticists and counselors. Moreover, they often have access to recourses, cytogeneticists, and others from which to obtain information, which they can then interpret appropriately for you.
You can ask your doctor for a referral or you can find a genetics clinic near you at the National Society of Genetic Counselors’ Resource website below.
Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University