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Subject: DIAG: 7 messages, 1 patient request
From: Agnes Tay <mcbtayhn@leonis.nus.sg>
Date: Fri, 28 Mar 1997 11:49:55 +1410

           HUM-MOLGEN  DIAGnostics/Clinical Research

This DIAG message contains  7 submessage(s), 1 patient request:

1. Huntington's Disease--Reply

2. Desmoids and Cancer?

3. Molecular Analysis in Menkes Disease

4. Monostotic fibrous dysplasia

5. Charcot-Marie-Tooth--Pt Request

6. 46XYY

7. Leber's Hereditary Optic Neuropathy

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

1. Huntington's Disease--Reply

"Document deleted upon request by editor"


2. Desmoids and Cancer?
I have an 11y child with onset of severe desmoid disease
in the shoulder region.
She has a 2nd degree relative with Colorectal cancer at 60
years of age.  No family history of desmoids, sebaceous
cysts or adenomas.  In view of the recent identification
 of the APC mutations in Hereditary Desmoid disease and
 the few case reports of familial disease what is the
risk to subsequent children?   Mother and father have no
clinical disease but have not had sigmoidoscopy.  Initial
thoughts were that the risk was negligible.  Has that

Dr Kathy Tucker
Clinical Geneticist
Hereditary Cancer Clinic
Prince of Wales Hospital
Randwick. Sydney Australia
3. Molecular Analysis in Menkes Disease
I would like to know who performs molecular analysis in patients and
families with Menkes disease.

Reply to: Franco Taroni <taroni@mbox.vol.it>

Many thanks.

*  Franco Taroni, M.D.                                        *
*  Department of Biochemistry and Genetics                    *
*  Istituto Nazionale Neurologico "C. Besta"                  *
*  via Celoria 11                                             *
*  I-20133 Milan, Italy                                       *
*                                                             *
*  Phone:  +39-2-2394-447 or -284                             *
*  Fax:    +39-2-2664236 (best) or +39-2-70638217             *
*  E-mail: taroni@mbox.vol.it (Franco Taroni)       (best)    *
*          frtlab@mbox.vol.it (Taroni's Lab)        (2nd)     *
4. Monostotic fibrous dysplasia

I am looking for a laboratory able to perform a mutation analysis of the
G-protein involved in the pathogenesis of Albright syndrome,
McCune-Albright syndrome and monostotic fibrous dysplasia.
The patient with fibrous dysplasia ("Jaffe-Lichtenstein") that I am
caring for lives in Munich, Germany, and would be interested to be
informed about the likelihood of transmission to offspring. There is a
rib biopsy sample (probably paraffin-embedded) available and blood
samples can also be provided. A laboratory close to Munich would appear
most suitable.

Dr. A. Danek
University Department of Neurology
Klinikum Grosshadern
Postfach 701260
D-81366 M|nchen
Tel. xx49/(0)89/7095-2824, Fax 089/7004418

5. Charcot-Marie-Tooth--Pt Request
Apparent Patient Location: US

I am looking for information for my sister and her son, also my mother.
 The three of them have been diagosed with Charcot Marie Tooth Syndrom.
We really don't have that much information on this desease and are
looking for more.
Any information you can pass by to me will be forwarded to my family,
and will be greatly appreciated.

6. 46XYY
I work at a centre for special education in Norway. One
of our clients has 47XYY syndrome Where can I get more info
on this syndrome?
Can I find educational implications as well?

Yours sincerely

Njal Arne Utgard
Server protocol: HTTP/1.0
Remote host: gjovik-6.ppp.sn.no
Remote IP address:

7. Leber's Hereditary Optic Neuropathy

Hi Folks,

I am looking for any information on
Leber's Hereditary Optic Neuropathy (LHON),
or people/institutes currently researching into LHON
and related (Mitochondrial) topics.

I am a trustee of the LHON Trust, a UK charity
 dedicated to gathering and distributing
information on this rare condition, and encouraging
research into it.

I am maintaining a WWW site dedicated to LHON and
related topics to further improve the spread of information
world-wide, and have had patients and their families
contact me from several countries already.  Any comments
on this site, especially suggested additional sources
of information, would be greatly appreciated.

Jim Leeder
Tel: (+44) 181 568 3076

106 Whitestile Road
TW8 9NL, United Kingdom

Leber's Hereditary Optic Neuropathy Trust
(Hon. Secretary Mrs. Teresa Handscombe)
13 Palmar Road
ME16 ODL, United Kingdom

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