I have a friend caring for a 9 year old girl who has a 2-3 reciprocal
translocation; the long arm of 2 is swapped with the short arm of 3.
The natural mother has not been diagnosed, but has, however, produced 2
girls and one boy, by two fathers; all the children have the
translocation. The mother is phenotypically normal, while the 9 year old
daughter exhibits mental slowness, and has been diagnosed as having
Wolfe-Parkinson-White heart syndrome. She also has a very broad nose
bridge. The other two children are very young, and have not shown any
unusual characteristics yet. My first guess as to original translocation
event would be during embryogenesis of the mother's germ line cells.
I would greatly appreciate information on:
1. The heart syndrome
2. 2-3 translocations - their frequency and phenotypic consequences
3. Related literature references
4. Your thoughts on the initial (original, in this family) translocation
event
I am comfortable with scientific jargon and slang associated with this
topic, having once been a practicing professional in the field of DNA and
genome evolution, and recombination at the molecular level.
Thank you,
Hank Burr
hburr at ohiohills.com
