The utility of chromosomal microarray analysis in developmental and behavioral pediatrics.

Chromosomal microarray analysis (CMA) has emerged as a powerful new tool to identify genomic abnormalities associated with a wide range of developmental disabilities including congenital malformations, cognitive impairment, and behavioral abnormalities. CMA includes array comparative genomic hybridization (CGH) and single nucleotide polymorphism (SNP) arrays, both of which are useful for detection of genomic copy number variants (CNV) such as microdeletions and microduplications. The frequency of disease-causing CNVs is highest (20%-25%) in children with moderate to severe intellectual disability accompanied by malformations or dysmorphic features. Disease-causing CNVs are found in 5%-10% of cases of autism, being more frequent in severe phenotypes. CMA has replaced Giemsa-banded karyotype as the first-tier test for genetic evaluation of children with developmental and behavioral disabilities.

[1]  Jay Shendure,et al.  Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations , 2012, Nature Genetics.

[2]  J. Sebat,et al.  CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics , 2012, Cell.

[3]  C. Shaw,et al.  High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy , 2011, BMC Medical Genetics.

[4]  J. Wiszniewska,et al.  Copy number and SNP arrays in clinical diagnostics. , 2011, Annual review of genomics and human genetics.

[5]  Michael E. Coulter,et al.  Chromosomal microarray testing influences medical management , 2011, Genetics in Medicine.

[6]  John Wei,et al.  Identify Risk Genes for ADHD Rare Copy Number Variation Discovery and Cross-Disorder Comparisons , 2011 .

[7]  Gregory M. Cooper,et al.  A Copy Number Variation Morbidity Map of Developmental Delay , 2011, Nature Genetics.

[8]  Boris Yamrom,et al.  Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders , 2011, Neuron.

[9]  Kathryn Roeder,et al.  Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism , 2011, Neuron.

[10]  Michael Wigler,et al.  Rare De Novo Variants Associated with Autism Implicate a Large Functional Network of Genes Involved in Formation and Function of Synapses , 2011, Neuron.

[11]  J. Miles.  Autism spectrum disorders—A genetics review , 2011, Genetics in Medicine.

[12]  C. Betancur,et al.  Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting , 2011, Brain Research.

[13]  P. Stankiewicz,et al.  Detection of clinically relevant exonic copy‐number changes by array CGH , 2010, Human mutation.

[14]  Matthew W State,et al.  The Genetics of Child Psychiatric Disorders: Focus on Autism and Tourette Syndrome , 2010, Neuron.

[15]  T. Shaikh,et al.  Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes , 2010, Molecular Psychiatry.

[16]  P. Stankiewicz,et al.  Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? , 2010, Human mutation.

[17]  R. Reading,et al.  Clinical genetic testing for patients with autism spectrum disorders , 2010 .

[18]  B. Torchia,et al.  Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH , 2010, Molecular Cytogenetics.

[19]  Kap-Seok Yang,et al.  RESEARCH ARTICLE Open Access Research article Application of a target array Comparative Genomic , 2022 .

[20]  H. Chugani,et al.  Tourette syndrome is associated with recurrent exonic copy number variants , 2010, Neurology.

[21]  Leslie G Biesecker,et al.  Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. , 2010, American journal of human genetics.

[22]  G. Willemsen,et al.  Genetic Epidemiology of Attention Deficit Hyperactivity Disorder (ADHD Index) in Adults , 2010, PloS one.

[23]  Ulrich Stephani,et al.  Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies , 2010, PLoS genetics.

[24]  Tomas W. Fitzgerald,et al.  Origins and functional impact of copy number variation in the human genome , 2010, Nature.

[25]  Laura K Conlin,et al.  Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. , 2010, Human molecular genetics.

[26]  C. Freitag,et al.  Phenotypic and measurement influences on heritability estimates in childhood ADHD , 2010, European Child & Adolescent Psychiatry.

[27]  I. B. Van den Veyver,et al.  Applications of array comparative genomic hybridization in obstetrics. , 2010, Obstetrics and gynecology clinics of North America.

[28]  J. Lupski,et al.  Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome , 2009, Annals of neurology.

[29]  J. Sebat,et al.  Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders. , 2009, Trends in genetics : TIG.

[30]  L. Vissers,et al.  Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis , 2009, Journal of Medical Genetics.

[31]  L. Weiss.  Autism genetics: emerging data from genome-wide copy-number and single nucleotide polymorphism scans , 2009, Expert review of molecular diagnostics.

[32]  Jessica R. Wolff,et al.  Microduplications of 16p11.2 are Associated with Schizophrenia , 2009, Nature Genetics.

[33]  L. Pasquier,et al.  Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases. , 2009, European journal of medical genetics.

[34]  P. Stankiewicz,et al.  Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders , 2009, Journal of Medical Genetics.

[35]  B. V. van Bon,et al.  Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome. , 2009, European journal of medical genetics.

[36]  A. Barnett,et al.  Advanced Paternal Age Is Associated with Impaired Neurocognitive Outcomes during Infancy and Childhood , 2009, PLoS medicine.

[37]  Christian E Elger,et al.  15q13.3 microdeletions increase risk of idiopathic generalized epilepsy , 2009, Nature Genetics.

[38]  L. D. White,et al.  Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases , 2009, Prenatal diagnosis.

[39]  P. Stankiewicz,et al.  Genomic Imbalances in Neonates With Birth Defects: High Detection Rates by Using Chromosomal Microarray Analysis , 2008, Pediatrics.

[40]  J. Jancar,et al.  Incest and mental handicap. , 2008, Journal of mental deficiency research.

[41]  D. Bishop,et al.  Heritability of specific language impairment depends on diagnostic criteria , 2008, Genes, brain, and behavior.

[42]  L. D. White,et al.  Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses , 2008, Genetics in Medicine.

[43]  L. Shaffer,et al.  The clinical utility of enhanced subtelomeric coverage in array CGH , 2007, American journal of medical genetics. Part A.

[44]  K. Gunderson,et al.  Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region , 2007, Genetics in Medicine.

[45]  J. Defries,et al.  Etiology of the Stability of Reading Difficulties: The Longitudinal Twin Study of Reading Disabilities , 2007, Twin Research and Human Genetics.

[46]  Pawel Stankiewicz,et al.  Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. , 2007, Current opinion in genetics & development.

[47]  Z. Ou,et al.  Clinical Implementation of Chromosomal Microarray Analysis: Summary of 2513 Postnatal Cases , 2007, PloS one.

[48]  R. Plomin,et al.  Twins' Early Development Study (TEDS): A Multivariate, Longitudinal Genetic Investigation of Language, Cognition and Behavior Problems from Childhood Through Adolescence , 2007, Twin Research and Human Genetics.

[49]  Ankita Patel,et al.  Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males , 2006, Genetics in Medicine.

[50]  A. Kindley,et al.  Should children with ADHD and normal intelligence be routinely screened for underlying cytogenetic abnormalities? , 2006, Archives of Disease in Childhood.

[51]  Mark Weiser,et al.  Advancing paternal age and autism. , 2006, Archives of general psychiatry.

[52]  R Redon,et al.  Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders , 2006, Journal of Medical Genetics.

[53]  Jonathan Williams,et al.  The evolution of hyperactivity, impulsivity and cognitive diversity , 2006, Journal of The Royal Society Interface.

[54]  J. Moeschler,et al.  Clinical Genetic Evaluation of the Child With Mental Retardation or Developmental Delays , 2006, Pediatrics.

[55]  J. Defries,et al.  Genetic etiology of reading difficulties in boys and girls. , 2005, Twin research and human genetics : the official journal of the International Society for Twin Studies.

[56]  S. Scherer,et al.  Severe expressive-language delay related to duplication of the Williams-Beuren locus. , 2005, The New England journal of medicine.

[57]  J. Gécz,et al.  Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. , 2005, American journal of human genetics.

[58]  R. Plomin,et al.  Low expressive vocabulary: higher heritability as a function of more severe cases. , 2005, Journal of speech, language, and hearing research : JSLHR.

[59]  N. Carter,et al.  Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents , 2005, Journal of Medical Genetics.

[60]  R. Plomin,et al.  Genetic Influences on Specific Versus Nonspecific Language Impairment in 4-Year-Old Twins , 2005, Journal of learning disabilities.

[61]  V. Kimonis,et al.  Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature , 2004, American journal of medical genetics. Part A.

[62]  Ryan A. Harris,et al.  Cost utility of prenatal diagnosis , 2004, The Lancet.

[63]  M Bobrow,et al.  Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features , 2004, Journal of Medical Genetics.

[64]  Ryan A. Harris,et al.  Cost utility of prenatal diagnosis and the risk-based threshold , 2004, The Lancet.

[65]  Chad A Shaw,et al.  Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions. , 2003, Human molecular genetics.

[66]  P. Bolton,et al.  Brief Report Prevalence of Autism Spectrum Conditions in Children Aged 5-11 Years in Cambridgeshire, UK , 2002, Autism : the international journal of research and practice.

[67]  Han G Brunner,et al.  High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization. , 2002, American journal of human genetics.

[68]  D. Regier,et al.  Revised prevalence estimates of mental disorders in the United States: using a clinical significance criterion to reconcile 2 surveys' estimates. , 2002, Archives of general psychiatry.

[69]  L. Knight,et al.  Del(3) (p25.3) without phenotypic effect. , 1995, Journal of medical genetics.

[70]  R. Mole.  Risks from Chronic Irradiation and their Haematological Control , 1954, Journal of clinical pathology.

[71]  J. Stockman.  l-Histidine Decarboxylase and Tourette's Syndrome , 2012 .

[72]  Rebecca,et al.  Multiple Recurrent De Novo Copy Number Variations , Including Duplications of the 7 q 11 . 23 Williams-Beuren Syndrome Region , Are Associated with Autism , 2011 .

[73]  C. Baker,et al.  Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. , 2010, Brain : a journal of neurology.

[74]  T. Metz,et al.  ACOG PRACTICE BULLETIN , 2009 .

[75]  H. Remschmidt,et al.  Schizophrenia and related disorders in children and adolescents. , 2005, Journal of neural transmission. Supplementum.

[76]  S. Sapra,et al.  Autism -- experiences in a tertiary care hospital. , 2005, Indian journal of pediatrics.

[77]  D. Babovic‐Vuksanovic,et al.  Utility of subtelomeric fluorescent DNA probes for detection of chromosome anomalies in 425 patients , 2003, Genetics in Medicine.

[78]  J. Yunis,et al.  High-resolution chromosome analysis in clinical medicine. , 1978, Progress in clinical pathology.

[79]  Yunis Jj,et al.  High-resolution chromosome analysis in clinical medicine. , 1978 .

[80]  D. Lambrechts,et al.  Addition of cetuximab to oxaliplatin-based first-line combination chemotherapy for treatment of advanced colorectal cancer: results of the randomised phase 3 MRC COIN trial , 2011, The Lancet.