MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions.

scientific article published on 10 October 2006

MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1016/J.EJMG.2006.10.002
P698PubMed publication ID17090394

P2093author name stringAnne-Marie Bisgaard
Maria Kirchhoff
Thue Bryndorf
Tommy Gerdes
P433issue1
P921main subjectpatientQ181600
Williams-Beuren syndromeQ558077
Sotos syndromeQ1770836
P304page(s)33-42
P577publication date2006-10-10
P1433published inEuropean Journal of Medical GeneticsQ15817083
P1476titleMLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions.
P478volume50

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cites work (P2860)
Q35772051"Familial" versus "Sporadic" intellectual disability: contribution of common microdeletion and microduplication syndromes
Q521500467q11.23 Duplication syndrome: Physical characteristics and natural history.
Q503083117q11.23 Microduplication: a recognizable phenotype
Q34328560A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion
Q37782049A three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental retardation and congenital anomalies
Q50345678Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders
Q34526233Autism, language delay and mental retardation in a patient with 7q11 duplication
Q51905266Autism, language delay and mental retardation in a patient with 7q11 duplication.
Q24632941CNV and nervous system diseases--what's new?
Q54839674Children with 7q11.23 duplication syndrome: psychological characteristics.
Q88866893Co-occurrence of a maternally inherited DNMT3A duplication and a paternally inherited pathogenic variant in EZH2 in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a DNMT3A dosage effect?
Q37741019Copy number variants at Williams-Beuren syndrome 7q11.23 region.
Q39912418Cytogenomic Evaluation of Children with Congenital Anomalies: Critical Implications for Diagnostic Testing and Genetic Counseling
Q43205026Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience
Q52617345De novo 5q35.5 duplication with clinical presentation of Sotos syndrome.
Q90047775Detection of copy number disorders associated with congenital anomalies of the kidney and urinary tract in fetuses via single nucleotide polymorphism arrays
Q36857758Diagnostics of common microdeletion syndromes using fluorescence in situ hybridization: single center experience in a developing country
Q34249436Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk?
Q36526055Duplication of the Miller-Dieker Critical Region in a Patient with a Subtelomeric Unbalanced Translocation t(10;17)(p15.3;p13.3).
Q37891733Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum
Q42109328Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum
Q42592048Fluorescence in situ hybridization (FISH) using non-commercial probes in the diagnosis of clinically suspected microdeletion syndromes.
Q33805828From microscopes to microarrays: dissecting recurrent chromosomal rearrangements
Q40106100Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly
Q37198442Genomic disorders ten years on.
Q35960747Genomic sister-disorders of neurodevelopment: an evolutionary approach
Q37160463Germline rates of de novo meiotic deletions and duplications causing several genomic disorders
Q82682201High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndrome
Q51951849Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases.
Q49270535Identification of novel genomic imbalances in Saudi patients with congenital heart disease.
Q40109275Molecular diagnosis utility of multiplex ligation-dependent probe amplification
Q30484771Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplications and identification of a novel microduplication in ASMT.
Q36689180Multiplex ligation-dependent probe amplification workflow for the detection of submicroscopic chromosomal abnormalities in patients with developmental delay/intellectual disability
Q37339103Overgrowth disorders associated with tall stature
Q51851557Prenatal detection of cryptic rearrangements by multiplex ligation probe amplification in fetuses with ultrasound abnormalities.
Q91716561Prenatal diagnosis of a 5q35.3 microduplication involving part of the ADAMTS2 locus: a likely benign variant without apparent phenotypic abnormality: Case series
Q33945408Rearrangements of the Williams-Beuren syndrome locus: molecular basis and implications for speech and language development
Q21342782Recent advances in the pathogenesis of syndromic autisms
Q33611367Search for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorder
Q50313009Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region
Q38286640Submicroscopic chromosome imbalance in patients with developmental delay and/or dysmorphism referred specifically for Fragile X testing and karyotype analysis
Q37582801Syndromic autism: causes and pathogenetic pathways
Q38951691The 7q11.23 Microduplication Syndrome: A Clinical Report with Review of Literature.
Q92131868The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay
Q33412587Unambiguous molecular detections with multiple genetic approach for the complicated chromosome 22q11 deletion syndrome

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