Velo-Cardio-Facial Syndrome: Molecular genetics of velo-cardio-facial syndrome

摘要: The occurrence of familial 22q11 deletion syndrome (22q11DS) raises the possibility prenatal diagnosis for those families at risk, and parents any new case should be offered screening. Deletion is most frequent interstitial chromosome observed in man, begging question as to whether there structural predisposition rearrangements this region. single gene hypothesis predicted that a subset velo-cardio-facial syndrome/DiGeorge Syndrome (VCFS/DGS) patients with no apparent would have small or point mutation inactivating major haploinsufficient condition. frustration failure find loss function mutations DGCR genes prompted investigators pursue animal models. Given cognitive deficits increased incidence behavioral difficulty 22q11DS attempts been made identify correlates mouse model.