[1] CHEN C P,LIN S P,LEE C L,et al.Familial transmission of recurrent 15q11.2(BP1-BP2) microdeletion encompassing NIPA1,NIPA2,CYFIP1,and TUBGCP5 associated with phenotypic variability in developmental,speech,and motor delay[J].Taiwan J Obstet Gynecol,2017,56(1):93-97.
[2] BULTER M G,BITTEL D C,KIBIRYEVA N,et al.Behavioral differences among subjects with Prader-Willi syndrome and type Ⅰ or type Ⅱ deletion and maternal disomy[J].Pediatrics,2004,113(3Pt1):565-573.
[3] PICINELLI C,LINTAS C,PIRAS I S,et al.Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders[J].Am J Med Genet B Neuropsychiatr Genet,2016,171(8):1088-1098.
[4] 程双喜,赖雪芳,詹文.0~6岁儿童神经心理发育量表在儿童智力障碍诊断中的临床应用[J].中国实用医药,2017,12(10):42-44.
[5] 孙彦香,高武红,黄彦科,等.晚期早产儿神经发育预后及影响因素分析[J].现代医学,2015,43(4):424-427.
[6] MURTHY S K,NYGREN A O,El H M,et al.Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment[J].Cytogenet Genome Res,2007,116(1-2):135-140.
[7] COOPER G M,COE B P,GIRIRAJAN S,et al.A copy number variation morbidity map of developmental delay[J].Nat Genet,2011,43(9):838-846.
[8] DOORNBOS M,SIKKEMA B,RUIJVENKAMP C A,et al.Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region,possibly associated with behavioural disturbances[J].Eur J Med Genet,2009,52(2-3):108-115.
[9] KOVEL C G,TRUCKS H,HELBIG I,et al.Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies[J].Brain,2010,133(Pt1):23-32.
[10] BUTLER M G.Clinical and genetic aspects of the 15q11.2 BP1-BP2 microdeletion disorder[J].J Intellect Disabil Res,2017,61(6):568-579.
[11] ROSENFELD J A,COE B P,EICHLER E E,et al.Estimates of penetrance for recurrent pathogenic copy-number variations[J].Genet Med,2013,15(6):478-481.
[12] VANLERBERGHE C,PETIT F,MALAN V,et al.15q11.2 microdeletion (BP1-BP2) and developmental delay,behaviour issues,epilepsy and congenital heart disease:a series of 52 patients[J].Eur J Med Genet,2015,58(3):140-147.
[13] CHASTE P,SANDERS S J,MOHAN K N,et al.Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2,specifically breakpoints 1 to 2[J].Autism Res,2014,7(3):355-362.
[14] ULFARSSON M O,WALTERS G B,GUSTAFSSON O,et al.15q11.2 CNV affects cognitive,structural and functional correlates of dyslexia and dyscalculia[J].Transl Psychiatry,2017,7(4):e1109.
[15] BURNSIDE R D,PASION R,MIKHAIL F,et al.Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2:a susceptibility region for neurological dysfunction including developmental and language delay[J].Hum Genet,2011,130(4):517-528.
[16] CAROL G,DIANA W,MARK D K,et al.Recommendations for the use of chromosome microarray in pregnancy[J].RCOP,2015,Web:www.rcpath.org.
[17] VAN D Z B,STAAL W G,HOCHSTENBACH R,et al.A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder[J].Am J Med Genet B Neuropsychiatr Genet,2010,153B(4):960-966. |