Mental retardation and psychosis in VCFS From the 22q11 deletion ...

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THE 22Q11 DELETION SYNDROME- Facial dysmorphism- Cardiac defects- Thymus hypoplasia- Palatal cleftPsychosis in 10-30% ofVCFS patientsPolymalformative SyndromeVCF syndrome(22q11DS) : the mostfrequent microdeletion in the population(1/4000)Detection of the 22q11deletion by FISHMild to moderate mentalretardation in 50% ofVCFS patients
14,5715,515,615,815,9616,0316,2616,3116,3516,5916,6516,716,8416,871717,3117,6317,7818,519,1520,143 Mb deletionCECR1TUBA8USP18PRODHDGCR5DGCR2GSCLHIRANLVCFUFD1LPNUTL1TBX1GNB1LCOMTARVCFRANBP1ZNF74PIK4CASNAP29UBE2L3VPREB1BCR______________________THE 22q11 REGION
Page 1: !Mental retardation and psychosis i
Page 5 and 6: MISSENSE MUTATIONS IN THE PRODH GEN
Page 7 and 8: MOLECULAR BASIS OF TYPE IHYPERPROLI
Page 9 and 10: CORRELATION BETWEEN HYPERPROLINEMIA
Page 11 and 12: VCFS SUBJECTS WITH SEVERE HYPERPROL
Page 13 and 14: SEVERE HYPERPROLINEMIA IS ASSOCIATE
Page 15 and 16: THE OPPOSITE STRATEGY: SEARCH FORPR
Page 17 and 18: TARGETED ANALYSIS28 candidate loci
Page 19 and 20: SUBJECTS 247 patients with mental r
Page 21 and 22: DISEASES ASSOCIATED CNVs: AUTISMID
Page 23 and 24: CONCLUSION• Type I hyperprolinemi

Mental retardation and psychosis in VCFS From the 22q11 deletion ...

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