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

HOME
Monday 20 September 2010

Aula didattica Presidenza Medicina, Polo Didattico Murri

Policlinico Sant’Orsola-Malpighi, Bologna 

Coordinator: Prof. Romano Tenconi - University of Padova

 HOME

 


 PROGRAM



10.45

- Communications (R. Tenconi, Padova)


11.00

- Seminars (30 m’+20 m’ discussion)

Two-hit model for severe developmental delay (Nat. Genet 2010;42;203):

     - the fact (C. Romano, Troina) ppt.file

     - understanding variable expressivity in microdeletion syndromes (Nat Genet 2010;42:192). "OZ version" (O. Zuffardi, PV)

 

11.45

- Practical disputes in Clinical Genetic

Array-CGH as first choice diagnostic test for the intellectual deficit? In Italy: pros and cons (O. Zuffardi vs M. Priolo) (15 m’+ 20 m’ discussion)

 

12.40

 

- Educational:

 

Gestaltic test of malformative syndromes (M. Priolo, RC) 20m’

 


13:10

- Lunch break
 



13.40

- "Classroom training" on a complicated/simulated counselling (moderator: M. Seri, BO)"When prenatal diagnosis by genetic tests predictive of a late-onset neurological disorder leads to a diagnosis in the parent. Experience with a family with his grandfather suffers from spastic paraplegia. You what would you have done for us?" .ppt file
 30 m’

 


14.20

 

- Projects: in progress

Glossary of morphological terms: Long Ears / asymmetrical ears (Magnani, PR) 10m' .ppt file


How has been transposed document  "Ricontatto"(contacted again)? (See Approval documents of the site) (Belli, TN) 10'm .ppt file

 

-Projects: new

Attitude of Clinical Geneticists towards Chromosomal Microarrays (CMA) as diagnostic tool for mental retardation and congenital anomalies: a survey on an Italian sample (Di Maria, GE) 10'm .ppt file

 

 

 

14:50

 

- Professional experiences abroad (10'm)

Institute of Medical Genetics, University Hospital of Wales, Cardiff (UK) by Angus Clark (2009) (Uliana, SI-GE) .ppt file

 


15:00

 

- Clinical cases (8'm presentation- 4'm counter-report-8'm discussion)


 

Presented by Diagnostic suspicion Discussant
Magnani (Parma) FG s? Tenconi (PD)
Bedeschi (Milano) Fryns s. VS Spondylo costal dysostosis? ?
Wischmeijer (Reggio Emilia) Arterial tortuosity s.? Tenconi (PD)
Palka (Chieti) Lowe s.? Della Monica (BN)
Castagnini (Siena) MR & palpebral ptosis: Rubinstein-Taybi s.? Romano (EN)
Alfei (Milano) Cohen s.? Renieri (SI)
Doz (Milano) Frontoparietal Bilateral Polymicrogyria? ?
Gnoli (Bologna) Overgrowth s.? ?
Ragni (Bologna) Malpuech s.? ?

Legend: ?=not assigned
                BLUE=postponed to next meeting

 


17.00

Closing session