[1] WHO.Multicentre Growth Reference Study Group.WHO Child Growth Standards:Length／height-for-age,weight-for-age,weight-for-length,weight-for-height and body mass index-for-age:Methods and development[R].Geneva:World Health Organization,2006:1-312.
[2] Christiansen J,Dyck JD,Elyas BG,et al.Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease[J].Circ Res,2004:94(11) 1429-1435.
[3] 龚亚飞,宋艳琴,李志华,等.1q21.1微缺失胎儿合并长骨发育异常1例[J].广东医学,2014,35(23):3771.
[4] Brunetti-Pierri N,Berg JS,Scaglia F,et al.Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities[J].Nat Genet,2008,40:1466-1471.
[5] Mefford HC,Sharp AJ,Baker C,et al.Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes[J].N Engl J Med,2008,359(16):1685-1699.
[6] Sharp AJ,Locke DP,McGrath SD,et al.Segmental duplications and copy-number variation in the human genome[J].Am J Hum Genet,2005,77:78-88.
[7] Cheung VG,Nowak N,Jang W,et al.Integration of cytogenetic landmarks into the draft sequence of the human genome[J].Nature,2001,409:953-958.
[8] Digilio MC,Bernardini L,Consoli F,et al.Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes:rare association with pulmonary valve stenosis[J].Eur J Med Genet,2013,56(3):144-149.
[9] Cadieux-Dion M,Safina NP,Engleman K,et al.Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype,immune deficiencies and 1q21.1 microdeletion syndrome:a case report[J].BMC Med Genet,2018,19(1):41.
[10] LIAO C,FU F,YI CX,et al.Prenatal diagnosis of an atypical 1q21.1 microdeletion and duplication associated with foetal urogenital abnormalities[J].Gene,2012,507(1):92-94.
[11] Kirov G.CNVs in neuropsychiatric disorders[J].Hum Mol Genet,2015,24(R1):45-49.
[12] Bernier R,Steinman KJ,Reilly B,et al.Clinical phenotype of the recurrent 1q21.1 copy-number variant[J].Genet Med,2016,18(4):341-349.
[13] Rosenfeld JA,Traylor RN,Schaefer GB,et al.Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes[J].Eur J Hum Genet,2012,20(7):754-761.
[14] Stefansson H,Rujescu D,Cichon S,et al.Large recurrent microdeletions associated with schizophrenia[J].Nature,2008,455(7210):232-236.
[15] The International Schizophrenia Consortium.Rare chromosomal deletions and duplications increase risk of schizophrenia[J].Nature,2008,455(7210):237-241.
[16] Walsh T,McClellan JM,McCarthy SE,et al.Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia[J].Science,2008,320(5875):539-543.
[17] Velinov M,Dolzhanskaya N.Clavicular pseudoarthrosis,anomalous coronary artery and extra crease of the fifth finger-previously unreported features in individuals with class II 1q21.1 microdeletions[J].Eur J Med Genet,2010,53(4):213-216
[18] Speicher MR,Carter NP.The new cytogenetics:blurring the boundaries with molecular biology[J].Nat Rev Genet,2005,6(10):782-792.
[19] 中国医师协会医学遗传学分会,中国医师协会青春期医学专业委员会临床遗传学组,中华医学会儿科学分会内分泌遗传代谢学组.染色体基因组芯片在儿科遗传病的临床应用专家共识[J].中华儿科杂志,2016,54(6):410-413.
[20] 杜传书.医学遗传学[M].3版.北京:人民卫生出版社,2014:1119.
[21] Bai D.Atrial fibrillation-linked GJA5/connexin40 mutants impaired gap junctions via different mechanisms[J].FEBS Lett,2014,588(8):1238-1243.
[22] Sun Y,Tong X,Chen H,et al.An atrial-fibrillation-linked connexin40 mutant is retained in the endoplasmic reticulum and impairs the function of atrial gap-junction channels[J].Dis Model Mech,2014,7(5):561-569.
[23] Mohebi M,Chenari S,Akbari A,et al.Mutation analysis of connexin 50 gene among Iranian families with autosomal dominant cataracts[J].Iran J Basic Med Sci,2017,20(3):288-293.