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Patau syndrome
Name: La Muse
Location: N/A
Country: N/A
Date: N/A
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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Update: June 2012
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