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PROGRAM
10:45
Presentation of the new Workgroup Coordinator (R.
Tenconi → M. Zollino)
11:15
Seminars (30 m’ -15 m’ discussion)
- Next generation sequencing: a methodology for all
seasons (A. Vetro & I. Limongelli, PV)
- The development and evolution of the brain have a
common genetic basis? (I. Scala, G. Andria, NA)
12:45
Educational:
Gestaltic Test on malformative syndromes (M. Priolo,
RC) 15m’
13:00
Classroom exercises on a complex consulting (coordinates
M. Seri, BO) 30 m’
- In the post-genomics let's not forget the formal
genetics: a case of prenatal diagnosis of autosomal
recessive polycystic kidney (M. Seri, BO)
13:30
Lunch Break
14:00
Projects in progress. Call of patients:
- the first Italian case of s. Sotos-like caused by
NFIX mutation (M. Priolo, RC): are there others? 10'
- TAR syndrome (A. Renieri, SI). 10'
Current questionnaire:
-The re-contact as continuity of care (E. Di Maria,
GE) 10'
-XLR diseases in females (L. Politano, NA) 10'
14:40
Papers submitted/in press/hot off the press:
-Relative Burden of Large CNVs on a Range of
Neurodevelopmental Phenotypes (C. Romano, Troina)
http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1002334
14:50
Clinical cases
Unusual case: lipomatosis in adulthood, which
genetic counseling? (OMIM %151900?) (M. Della Monica, BN)
-Clinical cases: previously presented and new
(8'm presentation- 4'm counter-report-8'm
discussion)
17.00
-Closing session and greetings exchange
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