[1] Poirsier C,Besseau-Ayasse J,Schluth-Bolard C,et al.A Fren ch multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH[J].Eur J Hum Genet,2016,24(6):844-851. [2] McDonald-McGinn DM,Sullivan KE,Marino B,et al.22q11.2 deletion syndrome[J].Nat Rev Dis Primers,2015,19(1):15071. [3] Bassett AS,McDonald-McGinn DM,Devriendt K,et al.Practical guidelines for managing patients with 22q11.2 deletion syndrome[J].J Pediatr,2011,159(2):332-339. [4] Cancrini C,Puliafito P,Digilio MC,et al.Clinical features and follow-up in patients with 22q11.2 deletion syndrome[J].J Pediatr,2014,164(6):1475-1480. [5] McDonald-McGinn DM.22q11.2 deletion syndrome:A tiny piece leading to a big picture[J].Am J Med Genet A,2018,176(10):2055-2057. [6] Chawner SJRA,Niarchou M,Doherty JL,et al.The emergence of psychotic experiences in the early adolescence of 22q11.2 deletion Syndrome[J].J Psychiatr Res,2018,5(109):10-17. [7] Unolt M,Versacci P,Anaclerio S,et al.Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome:from well-established knowledge to new frontiers[J].Am J Med Genet A,2018,176(10):2087-2098. [8] Davies EG.Immunodeficiency in DiGeorge syndrome and op tions for treating cases with complete athymia[J].Front Immunol,2013,31;(4):322. [9] Finocchi A,Di Cesare S,Romiti ML,et al.Humoral immune responses and CD27+ B cells in children with DiGeorge syndrome (22q11.2 deletion syndrome) [J].Pediatr Allergy Immunol,2006,17(5):382-388. [10] Morsheimer M,Brown Whitehorn TF,Heimall J,et al.The immune deficiency of chromosome 22q11.2 deletion syndrome[J].Am J Med Genet A,2017,173(9):2366-2372. [11] Van L,Boot E,Bassett AS.Update on the 22q11.2 deletion syndrome and its relevance to schizophrenia[J].Curr Opin Psychiatry,2017,30(3):191-196. [12] Lima K,Følling I,Eiklid KL,et al.Age-dependent clinical problems in a Norwegian national survey of patients with the 22q11.2 deletion syndrome[J].Eur J Pediatr,2010,169(8):983-989. [13] Chawner SJRA,Doherty JL,Moss H,et al.Childhood cognitive development in 22q11.2 deletion syndrome:case-control study[J].Br J Psychiatry,2017,211(4):223-230. [14] Van Den Heuvel E,Manders E,Swillen A,et al.Atypical la nguage characteristics and trajectories in children with 22q11.2 deletion syndrome[J].J Commun Disord,2018,75:37-56. [15] Friedman N,Rienstein S,Yeshayahu Y,et al.Post-childho od presentation and diagnosis of diGeorge syndrome[J].Clin Pediatr (Phila),2016,55(4):368-373. [16] Niarchou M,Zammit S,van Goozen SH,et al.Psychopath ology and cognition in children with 22q11.2 deletion syndrome[J].Br J Psychiatry,2014,204(1):46-54. [17] Fung WL,Butcher NJ,Costain G,et al.Practical guidelines for managing adults with 22q11.2 deletion syndrome[J].Genet Med,2015,17(8):599-609. [18] Liu AP,Chow PC,Lee PP,et al.Under-recognition of 22 q11.2 deletion in adult Chinese patients with conotruncal anomalies:implications in transitional care[J].Eur J Med Genet,2014,57(6):306-311. [19] Chan C,Costain G,Ogura L,et al.Reproductive health issues for adults with a common genomic disorder:22q11.2 deletion syndrome[J].J Genet Couns,2015,24(5):810-821. |