HUM-MOLGEN archive: DIAG: 7 messages, 1 patient request

************************************************************** 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 changed? Thanks 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 danek@brain.nefo.med.uni-muenchen.de ========================== 5. Charcot-Marie-Tooth--Pt Request Apparent Patient Location: US PLEASE REPLY DIRECTLY TO HUM-MOLGEN 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 nutgaard@sn.no ------------------------------------------------------------ Server protocol: HTTP/1.0 Remote host: gjovik-6.ppp.sn.no Remote IP address: 194.143.24.199 ========================================= 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. Regards, Jim Leeder Jim@Leeder.demon.co.uk http:/www.leeder.demon.co.uk/pages/LHONHome.htm Tel: (+44) 181 568 3076 mail: 106 Whitestile Road Brentford Middlesex TW8 9NL, United Kingdom Leber's Hereditary Optic Neuropathy Trust (Hon. Secretary Mrs. Teresa Handscombe) 13 Palmar Road Maidstone, Kent ME16 ODL, United Kingdom