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Please note that the only translocations for which this model predicts risks are balanced, reciprocal translocations. The model is not applicable to Robertsonian translocations, inversions, de novo translocations, sex chromosome rearrangements, and translocations involving more than two chromosomes.Information required to estimate translocation carrier risks:
First, in determining risks for a translocation carrier, it is essential to consider how the translocation was initially ascertained. Typical reasons for ascertainment include:
- Prenatal diagnosis for an unrelated reason (i.e. maternal age)
- Blood chromosome studies because of multiple pregnancy loss or infertility
- Birth of a child with a balanced or unbalanced chromosome translocation
- A translocation identified on products of conception that was inherited from a parent
To obtain translocation risk estimates:
- Please print our translocation information request form and E-mail it to Dr. Carolyn Trunca at email@example.com. Please make sure that all information, including translocation break points, a full three generation pedigree, method of ascertainment, and maternal age are included.
- Dr. Carolyn Trunca will contact you by E-mail or telephone with the risk estimates you have requested. We do not provide information directly to your patients.
- Please do not have patients contact Dr. Trunca directly for this information.
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