Application of chromosome microarray analysis in patients with unexplained developmental delay/intellectual disability in South China

Pediatrics & Neonatology - Tập 60 Số 1 - Trang 35-42 - 2019
Rongyue Wang1,2, Tingying Lei3, Fang Fu3, Ru Li3, Xiangyi Jing3, Xin Yang3, Juan Liu4, Dong‐Zhi Li3, Can Liao3,1
1Southern Medical University, Guangzhou 510515, Guangdong, China
2The Second Hospital affiliated to Wenzhou Medical University, Wenzhou, 325035, Zhejiang, China
3Department of Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510623, Guangdong, China
4Foshan Women and Children's Hospital, Foshan, 528000, Guangdong, China

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Tài liệu tham khảo

Beaudet, 2013, The utility of chromosomal microarray analysis in developmental and behavioral pediatrics, Child Dev, 84, 121, 10.1111/cdev.12050

Moeschler, 2014, Comprehensive evaluation of the child with intellectual disability or global developmental delays, Pediatrics, 134, e903, 10.1542/peds.2014-1839

Chelly, 2006, Genetics and pathophysiology of mental retardation, Eur J Hum Genet, 14, 701, 10.1038/sj.ejhg.5201595

Miclea, 2015, Genetic testing in patients with global developmental delay/intellectual disabilities. A review, Clujul Med, 88, 288, 10.15386/cjmed-461

Weiss, 2008, Association between microdeletion and microduplication at 16p11.2 and autism, N Engl J Med, 358, 667, 10.1056/NEJMoa075974

Miller, 2010, Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies, Am J Hum Genet, 86, 749, 10.1016/j.ajhg.2010.04.006

South, 2013, ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013, Genet Med, 15, 901, 10.1038/gim.2013.129

Keren, 2011, Oligonucleotide microarrays in constitutional genetic diagnosis, Expert Rev Mol Diagn, 11, 521, 10.1586/erm.11.32

Manning, 2010, Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities, Genet Med, 12, 742, 10.1097/GIM.0b013e3181f8baad

Xiang, 2008, Analytical and clinical validity of whole-genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay, Am J Med Genet A, 146A, 1942, 10.1002/ajmg.a.32411

Shaw-Smith, 2004, Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features, J Med Genet, 41, 241, 10.1136/jmg.2003.017731

Hochstenbach, 2009, Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in The Netherlands, Eur J Med Gene, 52, 161, 10.1016/j.ejmg.2009.03.015

Shin, 2015, Routine chromosomal microarray analysis is necessary in Korean patients with unexplained developmental delay/mental retardation/autism spectrum disorder, Ann Lab Med, 35, 510, 10.3343/alm.2015.35.5.510

Sharp, 2007, Characterization of a recurrent 15q24 microdeletion syndrome, Hum Mol Genet, 16, 567, 10.1093/hmg/ddm016

Mefford, 2012, Further clinical and molecular delineation of the 15q24 microdeletion syndrome, J Med Genet, 49, 110, 10.1136/jmedgenet-2011-100499

Palazón-Bru, 2016, An inferential study of the phenotype for the chromosome 15q24 microdeletion syndrome: a bootstrap analysis, PeerJ, 4, e1641, 10.7717/peerj.1641

Swanberg, 2009, Reciprocal co-regulation of EGR2 and MECP2 is disrupted in Rett syndrome and autism, Hum Mol Genet, 18, 525, 10.1093/hmg/ddn380

Ventura, 2006, A novel familial MECP2 mutation in a young boy: clinical and molecular findings, Neurology, 67, 867, 10.1212/01.wnl.0000233990.87889.15

Satre, 1999, Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene, Am J Hum Genet, 65, 68, 10.1086/302443

Osei, 1995, Screening and sequence determination of a cDNA encoding the human brain 4-aminobutyrate aminotransferase, Gene, 155, 185, 10.1016/0378-1119(94)00858-P

Besse, 2015, The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism, Cell Metab, 21, 417, 10.1016/j.cmet.2015.02.008

Takano, 2008, A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family, Am J Med Genet B Neuropsychiatr Genet, 147B, 479, 10.1002/ajmg.b.30638

Ramser, 2004, A splice site mutation in the methyltransferase gene FTSJ1 in Xp11.23 is associated with non-syndromic mental retardation in a large Belgian family (MRX9), J Med Genet, 41, 679, 10.1136/jmg.2004.019000

Nizon, 2015, Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature, Am J Med Genet A, 167, 111, 10.1002/ajmg.a.36807

Willemsen, 2012, Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects, J Med Genet, 49, 179, 10.1136/jmedgenet-2011-100542

Poirier, 2013, Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly, Nat Genet, 45, 639, 10.1038/ng.2613

Coe, 2014, Refining analyses of copy number variation identifies specific genes associated with developmental delay, Nat Genet, 46, 1063, 10.1038/ng.3092