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Author Topic:   Treacher Collins Syndrome
posted 12-10-2002 02:45 PM     Click Here to See the Profile for Administrator     Edit/Delete Message Reply w/Quote
Dear Sirs
We have a couple who have a son with Treachar Collins Syndrome, and they want have more children. Therefore, I would like to know if you can help me to find the Laboratory which performs the molecular diagnosis of this condition.

Thank you in advance
Yours sincerely

MT Lourenço MD
Seerviço de Genética Médica
Hospital Egas Moniz
1300 Lisboa-PORTUGAL
e-mail addres:terjea@mail.telepac.pt or


posted 12-17-2002 04:50 PM     Click Here to See the Profile for danas13   Click Here to Email danas13     Edit/Delete Message Reply w/Quote
After searching the Treacher-Collins syndrome
in the Rare diseases data base (www.orpha.net), I came up with a lab. in Rome that does the diagnose you formerly refered to:
Person(s) responsible:
Sig Dr Mario BENGALA
Sig Pr Giuseppe NOVELLI
Name of the service:
Laboratorio di Genetica Medica - Dipartimento di Biopatologia e Diagnostica per
Address :
Università degli Studi "Tor Vergata"
Via Montpellier 1
00133 ROMA
Phone :
06 72596080 - 06 20900664
Fax :
06 20427313 - 06 20900669
I hope to have been helpful in this matter.

Best Regards
Daniel Osório


posted 01-14-2003 02:13 PM     Click Here to See the Profile for jkennedy   Click Here to Email jkennedy     Edit/Delete Message Reply w/Quote
I believe Professor Mike Dixon at Manchester University, who identified the TCOF gene, has transferred mutation screening on a service basis to the Regional Genetics Service at St Marys Hospital, Manchester, UK.
See www.cmgs.org and look up the DNA lab at St Marys Hospital for contact details.


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