Session 2	Date Sept 16		Chairman: Pietro Chiurazzi	Title Session XLMR – Clinical phenotype and Gene function
Time	Old abstract #	New abstract #	Presenter	Title Presentation
9:30 - 9:50	51	2	Guy Froyen	A NOVEL RECURRENT COPY NUMBER GAIN AT Xq28 IN FOUR MR FAMILIES REVEALS A DOSAGE-DEPENDENT SEVERITY OF THE PHENOTYPE AND SUGGESTS A NOVEL RECOMBINATION MECHANISM
9:50 – 10:10	68	3	Hilde van Esche	THE MECP2 DUPLICATION SYNDROME: WHAT’S NEW?
10:10 – 10:30	86	4	Patrizia D’Adamo	MUTATIONS IN HUMAN RAB39B GENE ARE RESPONSIBLE FOR X-LINKED NON-SPECIFIC MENTAL RETARDATION
10:30 – 10:50	52	5	Jozef Gecz	UNDERSTANDING THE MOLECULAR PATHOLOGY OF UPF3B MUTATIONS
10:50 – 11:10	80	6	Rafaella Nascimento	FUNCTIONAL ANALYSIS OF UBE2A C.382C-T MUTATION: INSIGHT INTO THE MECHANISMS LEADING TO MENTAL RETARDATION