[1] Cody JD,Sebold C,Malik A,et al.Recurrent interstitial deletions of proximal 18q:a new syndrome involving expressive speech delay[J].Am J Med Genet A,2007,143A(11):1181-1190.
[2] McEntagart M,Carey A,Breen C,et al.Molecular characterisation of a proximal chromosome 18q deletion[J].J Med Genet,2001,38(2):128-129.
[3] Wang P,Carrion P,Qiao Y,et al.Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autism[J].European Journal of Medical Genetics,2013,56(8):420-425.
[4] Bui PH,Dorrani N,Wong D,et al.First report of a de novo 18q11.2 microdeletion including GATA6 associated with complex congenital heart disease and renal abnormalities[J].American Journal of Medical Genetics Part A,2013,161(7):1773-1778.
[5] Marseglia G,Scordo MR,Pescucci C,et al.372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment[J].European Journal of Medical Genetics,2012,55(3):216-221.
[6] Bouquillon S,Andrieux J,Landais E,et al.A 5.3Mb deletion in chromosome 18q12.3 as the smallest region of overlap in two patients with expressive speech delay[J].European Journal of Medical Genetics,2011,54(2):194-197.
[7] O'Donnell L,Soileau B,Heard P,et al.Genetic determinants of autism in individuals with deletions of 18q[J].Human Genetics,2010,128(2):155-164.
[8] Wilson GN,Al SA.Obesity and abnormal behaviour associated with interstitial deletion of chromosome 18 (q12.2q21.1)[J].J Med Genet,1989,26(1):62-63.
[9] Tinkle BT,Christianson CA,Schorry EK,et al.Long-term survival in a patient with del(18)(q12.2q21.1)[J].Am J Med Genet A,2003,119A(1):66-70.
[10] Kotzot D,Haberlandt E,Fauth C,et al.Del(18)(q12.2q21.1) caused by a paternal sister chromatid rearrangement in a developmentally delayed girl[J].Am J Med Genet A,2005,135(3):304-307.
[11] Feenstra I,Vissers LELM,Orsel M,et al.Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH:An update of the phenotypic map[J].American Journal of Medical Genetics Part A,2007,143A(16):1858-1867.
[12] Buysse K,Menten B,Oostra A,et al.Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome[J].American Journal of Medical Genetics Part A,2008,146A(10):1330-1334.
[13] Filges I,Shimojima K,Okamoto N,et al.Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome[J].J Med Genet,2011,48(2):117-122.
[14] Kim SK.Recent update of autism spectrum disorders[J].Korean J Pediatr,2015,58(1):8-14.
[15] Lauritsen MB.Autism spectrum disorders[J].Eur Child Adolesc Psychiatry,2013,22(S):37-42.
[16] Wong VC,Kwan QK.Randomized controlled trial for early intervention for autism:a pilot study of the Autism 1-2-3 Project[J].J Autism Dev Disord,2010,40(6):677-688.
[17] Lord C,Risi S,Lambrecht L,et al.The autism diagnostic observation schedule-generic:a standard measure of social and communication deficits associated with the spectrum of autism[J].J Autism Dev Disord,2000,30(3):205-223.