MEETINGS ON CLINICAL GENETICS
SIGU
(Italian Society of Human Genetics)


Monday
14.12.2009 (4/09)

Pisa
aula Clinica Pediatrica,
AOU Pisana, Ospedale Santa Chiara - Pisa
 

Coordinator: Prof. Romano Tenconi - University of Padova

 

 


 PROGRAM


 

10.45

 
Communications (R. Tenconi, Padova)

- Comments on SIGU congress and on Clinical Genetics meeting (Head to Head in clinical genetics. Will clinical geneticists deliver real benefits for patients?
YES: E. Di Maria Genova, MAYBE: P. Cavalli Cremona) pdf file


11.15

Seminars:

- Analysis of candidate genes driven by the clinic: two examples (M. Seri & C. Graziano, Bologna) ppt file

- Classifications of ichthyoses (G. Tadini, Milano) ppt file


Bringing up to date:

Gene expression profiling in Noonan syndrome (G.B. Ferrero, Torino)


13:00

Educational:

- Gestalt test in malformation syndromes (M. Priolo, Reggio Calabria)


13:20
Break
 

13:50

Ongoing projects:

- Follow-up and re-contact of families. Ready (S. Belli, Trento) ppt file

- Glossary of morphological signs: definition of external ears position (M.F. Bedeschi, Milano) ppt file
 

 

14:00

Papers in press/submitted

- Eyebrow anomalies as a diagnostic sign of genomic disorders (M. Silengo et al. Torino, Pavia & Seattle)
 

14.10

Dysmorphology pitfalls in adult patients:

Diagnostic odyssey ends with the diagnosis made by the patient’ sister (E. Tarantino, Siena). And more…

 

 Presentation and discussion of new cases:
 
Presented by Diagnostic suspicion Discussant
M. Doz (C. Pantaleoni, Milano) Smith-Magenis s.? G. Scarano
E. Alfei (C. Panaleoni, Milano) Angelman s.? M. Mari
E. Trevisson (R. Tenconi, Padova) Kallmann s. and XL ichthyosis? G. B. Fererro
K. Ludwig (R. Tenconi, Padova) Cleidocranial Dysostosis ?  
A. Marozza (A. Renieri, Siena) Rubinstein-Taybi s.?  


17.00

Conclusions and Christmas greetings