I have been diagnosed as having a balanced translocation involving chromosome 16. What is my risk of having a child with a malformation/developmental delay?
Typically a carrier of a balanced translocation can expect roughly 50:50 odds for whether the translocation will be transmitted to their germ cells in balanced (normal) or unbalanced form. In some cases the unbalanced products may not be compatible with life and result in spontaneous abortion. In other cases, there may be risk of birth defects. Each case is different and depends on the involved ‘breakpoints’. Such individuals should be referred for genetic counselling for information relating to their particular abnormality.
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