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Name: La Muse
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Question:
A faculty member at our high school asked us to find more information about the genetic disorder discovered through amniocentesis, called trisomy 13 (patau syndrome). We discovered very little about it, and hope someone can help track this down.



Replies:
Patau's syndrome causes eye abnormalities (ranging from cyclopia to no eyes to small, abnormal eyes which may or may not be blind, to normal vision), cleft lip/palate is common but variable in its extent. Anatomical difficulties are the least of the problems, since they can often be repaired with surgery. The underlying physiological problems are more severe, usually resulting in gross retardation and often death before the age of 1. In general, trisomies are usually pretty severe, and most often they are probably lethal. Good luck!

Ellen Mayo


The 15th edition of the Merck Manual has 1 page on it (2147). Basically, it occurs in 1:5,000 births. Is associated with severe mental retardation and anatomical brain abnormalities. Is associated with multiple other birth defects. 70% die before age 6 months, 20% survive past 1 year. If you need more specifics let me know and maybe I can answer them.

JOEL



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