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To: HUM-MOLGEN@NIC.SURFNET.NL
Subject: posting
From: Agnes Tay <mcbtayhn@leonis.nus.sg>
Date: Wed, 4 Jun 1997 08:29:05 +0500

*************************************************************
HUM-MOLGEN  DIAGnostics/Clinical Research
**************************************************************

This DIAG message contains 3  submessage(s),1 patient request:

1. Parkinson's Cluster

2. Microtia

3. NF2--Pt Request

Carlo Gambacorti MD, Editor,            Agnes Tay, MD PhD, Asst Editor
Human Molecular Genetics Network
Diagnostics/Clinical Research Section

========================================================================
1. Parkinson's Cluster
Is there evidence for a genetic component to Parkinson's Disease? I have
just learned of a cluster of 12 individuals who might be related by a
founder effect. Any information would be appreciated.

Bob Pollack
<pollack@clumbia.edu>

Robert E Pollack
Professor, Dept of Biological Sciences
749 Fairchild Laboratory
1212 Amsterdam Avenue
mailcode 2419
Columbia University
New York NY 10027

phone: 212 854 2409
fax: 212 854 0897
============================================================
2. Microtia

I've just seen two unrelated Latin American patients with isolated
bilateral Microtia III (no spinal anomalies, no facial dysmorphism). The
first, a little boy, has no family history, and the family was given a low
recurrence risk.  The second, a little girl has a distant family history
(father's mother's sister and that person's child) of _unilateral_
microtia.  I have examined the father and his ears are normal.  He reports
that his mother's ears also are normal.  Literature is all over the board.
I would appreciate any advice regarding couseling this family on recurrence
risk.  Based upon what I have found, I am inclined towards telling them
that their empiric risk is about 5%, but that it may be as high as 50%.


Angela E. Scheuerle, M.D.
Assistant Professor
Division of Medical Genetics
Department of Pediatrics
UT Health Science Center - Houston
6431 Fannin, MSB 3.144
Houston TX  77030
ascheuer@ped1.med.uth.tmc.edu
============================================================

3.NF2--Patient Request
Apparent Pt Location: England
PLEASE REPLY DIRECTLY TO HUM-MOLGEN

Dear all,
          I am keen to know as much as possible about the latest research
into NF2.     I am a patient of the disorder, and would appreciate any
information
particularly about new forms of (non-surgical) treatment.

==================================================================


   
 
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