Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services

• Published in: Gene Vol. 535; no. 1; pp. 70 - 78
• Main Authors: Roberts, Jennifer L., Hovanes, Karine, Dasouki, Majed, Manzardo, Ann M., Butler, Merlin G.
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01.02.2014
• Subjects: Adolescent; Adult; autism; Autism spectrum disorders (ASD); Child; Child Development Disorders, Pervasive - genetics; Child, Preschool; Chromosomal microarray analysis; Chromosome Aberrations; chromosomes; Copy number variant (CNV); Developmental delay; Female; females; Genetic Services; genome; Humans; Infant; learning; Learning Disabilities - genetics; Learning disability; Male; males; Microarray Analysis; microarray technology; Middle Aged; oligonucleotides; patients; seizures; Young Adult; YWHAE; PTEN; Developmental delay; PARK2; EEF1B2; ACOXL; ACADL; Learning disability; ZNF407; SACS; POLG; LINS; USP6; EEG; ADIPOQ; COBL; PTH2R; SUMF1; HAX1; MYL1; IL1RAPL1; NDUFS1; SHANK3; HDAC; NLGN2; ANKRD11; CHRNA7; NRXN1; RPE; MRPL19; ITPR1; Chromosomal microarray analysis; XIAP; Autism spectrum disorders (ASD); CNV; FBXO45; CACNA1C; PRPF8; aCGH; FAM117B; KNG1; SD; ASD; BCL2L11; FXR2; ANOVA; MAP2; GALR1; LMNA; NPHP1; SHOX; A2BP1; MBP; PAK2; SH2B1; TRAPPC2; Copy number variant (CNV); BAC; FZD5; IDH1; GATAD2B; SMARCA4; ALS2CR8; CT; KLF7; DLG1; STAG2; DLG4; DNA; FAT1; FISH; PMP22; UCSC; GZF1; ataxin 2-binding protein 1 gene; inositol 1,4,5-triphosphate receptor, type 1 gene; lamin A gene; neurexin 1 gene; frizzled 5 gene; histone deacetylase gene; parathyroid hormone receptor 2 gene; calcium channel, voltage dependent, L-type, alpha 1C subunit gene; acyl-coA dehydrogenase, long chain gene; GATA zinc finger domain-containing protein 2B gene; GDNF-inducible zinc finger protein 1 gene; SH3 and multiple ankyrin repeat domains 3 gene; tracking protein particle complex, subunit 2 gene; polymerase gamma gene; kininogen 1 gene; interleukin 1 receptor accessory protein-like 1 gene; fluorescence in situ hybridization; array comparative genomic hybridization; microtubule-associated protein 2 gene; X-linked inhibitor of apoptosis gene; F-box only 45 gene; ribulose 5-phosphate 3-epimerase gene; discs, large homolog 1 gene; copy number variant; stromal antigen 2 gene; family with sequence similarity 117, member B gene; phosphatase and tensin homolog gene; SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member gene; ubiquitin-specific protease 6 gene; bacterial artificial chromosome; zinc finger protein 407 gene; discs, large homolog 4 gene; NADH-ubiquinone oxidoreductase Fe-S protein 1 gene; sacsin gene; cordon-bleu gene; ankyrin repeat domain-containing protein 11 gene; FAT tumor suppressor 1 gene; sulfatase-modifying factor 1 gene; parkin gene; precursor mRNA-processing factor 8 gene; protein-activated kinase 2 gene; eukaryotic translation elongation factor 1, beta-2 gene; nephrocystin 1 gene; cholinergic receptor, neuronal nicotinic, alpha polypeptide 7 gene; isocitrate dehydrogenase 1 gene; galanin receptor 1 gene; BCL2-like 11 gene; autism spectrum disorder; lines homolog gene; kruppel-like factor 7 gene; electroencephalogram; short stature homeobox gene; myelin basic protein gene; acyl-coA oxidase-like gene; neuroligin 2 gene; standard deviation; ALS2 chromosome region gene 8; myosin, light peptide 1 gene; analysis of variance; deoxyribonucleic acid; HCLS1-associated protein X1 gene; mitochondrial ribosomal protein L19 gene; computed tomography; University of California, Santa Cruz; fragile X mental retardation, autosomal homolog 2 gene; peripheral myelin protein 22 gene; adipocyte-, C1q-, and collagen domain containing gene; SH2B adaptor protein 1 gene; tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon isoform gene

Chromosomal microarray analysis is now commonly used in clinical practice to identify copy number variants (CNVs) in the human genome. We report our experience with the use of the 105K and 180K oligonucleotide microarrays in 215 consecutive patients referred with either autism or autism spectrum dis...