DIAG:

[Carlo Gambacorti <GAMBACORTI@icil64.cilea.it>]

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           HUM-MOLGEN  DIAGnostics/Clinical Research
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This DIAG message contains 1 submessage(s):

1)   Rokitansky syndrome and genetic analysis

2)



  Carlo Gambacorti MD, Editor,
  Human Molecular Genetics network
  Diagnostics/Clinical Research Section


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Hello!
        I am a graduate student at Tufts University in Boston and am
screening patients with Rokitansky Syndrome (congenital absence of the
uterus and vagina) for point mutations in candidate genes.  I am curious
to know if anyone else in the world is or has done any genetic analysis
on these types of patients.  The frequency of this disorder is fairly high
(1 out of 5000 female births).
        To my knowledge there hasn't been any documented genetic analysis
concerning these patients.  The fact that no genes important for the
female reproductive tract (mullerian system) have been identified explains
the lack of genetic analysis.
        I would appreciate any comments.

        Have a good day =]

        Barbara van Lingen
        Boston, Ma
     BVANLING@OPAL.TUFTS.EDU