Unbalanced translocation Chromsomes 9 & 10

[happyplanner]

I have twin boys who are now 7 years old. When I gave birth to my twins they identified that they may suffer from some kind of syndrome.  After several months and lots of tests it is indentified that they have a unbalanced translocation between chromosomes 9 and 10.  At the sametime it was identified that I (mom) have a balanced translocation between 9 and 10.  It has been a tough road and they suffer with everything from seizures to global developmental delays.  My question is: Has this every happened before?  in my research I haven't found anyone else who has a 9, 10 unbalance.  I decided to have my tubes tied so that it wouldn't happen again as they indicated that 55% chance that it would.  We really want to add to our family, Could you provide a little information about PGD testing???????  Thanks

[Jordanna Joaquina, MS, CGC]

Some translocations are more common than others. We recommend that you meet with a genetic counselor who would be able to assess the recurrence risk for a chromosome abnormality based on your specific translocation (for example - the breakpoints), personal history, family history and maternal age.

Regarding preimplantation genetic diagnosis (PGD; also called preimplantation testing), PGD is used to detect genetic changes in embryos that were created using assisted reproductive techniques such as in-vitro fertilization. In-vitro fertilization involves removing egg cells from a woman's ovaries and fertilizing them with sperm cells outside the body. To perform preimplantation testing, a small number of cells are taken from these embryos and tested for certain genetic changes.

PGD can reduce the risk of having a child with a particular genetic or chromosomal disorder but does not completely eliminate it. Diagnostic testing, such as a CVS or amniocentesis, is also often offered even when a couple undergoes PGD.

PGD is typically only available through an in person genetic consultation involving a medical geneticist and/or genetic counselor. You can find a medical geneticist at the American College of Medical Genetics website. You can find a genetic counselor at the National Society of Genetic Counselors or through companies like mine, AccessDNA. You can also find more information about chromosome translocations and PGD at AccessDNA.