Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome.

No abstract is available for this paper.

• Publication year

  1993

• Venue

  Journal of Medical Genetics

• Publication date

  1993-06-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1136/jmg.30.6.529PMID 8326502PMCID PMC1016435
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• DNA deletion and its parental origin in Angelman syndrome patients.

  1991cited by this paper
• Genomic imprinting in an Angelman and Prader-Willi translocation family.

  1991cited by this paper
• Dinucleotide repeat polymorphism of D15S10 in the Prader-Willi chromosome region (PWCR).

  1991cited by this paper
• Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers.

  1990cited by this paper
• Rearrangement of chromosome 15 in the region q11.2----q12 in an individual with obesity syndrome and her normal mother.

  1990cited by this paper
• Monitorización incruenta del gasto cardíaco por Doppler en cirugía aorto-ilíaca. Estudio preliminar

  1989cited by this paper
• Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion.

  1989cited by this paper
• The association of Angelman's syndrome with deletions within 15q11-13.

  1989cited by this paper
• Proximal 15q variant with normal phenotype in three unrelated individuals

  1987cited by this paper
• Is Angelman syndrome an alternate result of del(15)(q11q13)?

  1987cited by this paper
• Clinical heterogeneity associated with deletions in the long arm of chromosome 15: report of 3 new cases and their possible genetic significance.

  1987cited by this paper
• A rapid method for the purification of DNA from blood.

  1987cited by this paper
• Duplication of proximal 15q as a cause of Prader-Willi syndrome.

  1987cited by this paper
• IgG heavy-chain (Gm) allotypes in familial polyposis coli.

  1986cited by this paper
• Duplication in chromosome 15q in a boy with the Prader‐Willi syndrome; further cytogenetic confusion

  1984cited by this paper
• Duplication or insertion in 15q11–13 associated with mental retardation ‐short stature and obesity ‐ Prader‐Willi or Cohen syndrome?

  1984cited by this paper
• Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases.

  1982cited by this paper
• ‘Puppet’ Children A Report on Three Cases

  1965cited by this paper

• Chromosome 15q11-q13 Duplication Syndrome: A Review of the Literature and 14 New Cases

  2024cites this paper
• Multiscale spatio-temporal dynamics of UBE3A gene in brain physiology and neurodevelopmental disorders.

  2024cites this paper
• Difficulties in the differential diagnosis of Angelman’s syndrome

  2023cites this paper
• Complex chromosomal rearrangement involving 15q11-q13 Complex chromosomal rearrangement involving 15q11-q13 interstitial triplication and duplication: A new case report of interstitial triplication and duplication: A new case report of dysmorphic and neuropsychiatric features dysmorphic and neuropsy

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• JAX-CNV: A Whole-genome Sequencing-based Algorithm for Copy Number Detection at Clinical Grade Level

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• Investigation of Cell-Type-Specific Effects and Synergistic Interactions Between Genes in Duplication 15q Syndrome

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• Hypomelanosis of Ito and De novo Interstitial 15q11.2q13.3 Triplication in Bulgarian Family

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• Williams Syndrome and 15q Duplication: Coincidence versus Association

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  2015influential citation
• Minocycline Treatment and the Necessity to Develop a Novel Outcome Measure for Children with Angelman Syndrome

  2015cites this paper
• Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 15.

  2014cites this paper
• Social behavior and characteristics of autism spectrum disorder in Angelman, Cornelia de Lange, and Cri du Chat syndromes.

  2013cites this paper
• The Interstitial Duplication 15q11.2-q13 Syndrome Includes Autism, Mild Facial Anomalies and a Characteristic EEG Signature

  2013cites this paper
• Spatial and temporal silencing of the human maternal UBE3A gene.

  2012cites this paper
• Understanding the Pathogenesis of Angelman Syndrome through Animal Models

  2012cites this paper
• The assessment and presentation of Autism Spectrum Disorder and associated characteristics in individuals with severe intellectual disability and genetic syndromes

  2011cites this paper
• Behavioral phenotypes of genetic syndromes with intellectual disability: comparison of adaptive profiles.

  2011cites this paper
• Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy

  2011cites this paper
• The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13.

  2010cites this paper
• Common recurrent microduplication syndromes: Diagnosis and management in clinical practice

  2010cites this paper
• Genomic copy number variation in disorders of cognitive development.

  2010cites this paper
• Autism spectrum disorders in genetic syndromes: implications for diagnosis, intervention and understanding the wider autism spectrum disorder population.

  2009cites this paper
• Angelman and Prader-Willi syndromes in Estonia

  2007cites this paper
• Childhood autism and associated comorbidities.

  2007cites this paper
• Imbalanced genomic imprinting in brain development: an evolutionary basis for the aetiology of autism

  2006cites this paper
• High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping.

  2006cites this paper
• genetic aspects Angelman syndrome: a review of the clinical and

  2005cites this paper
• Genetic and phenotypic dissection of autism susceptibility

  2005cites this paper
• A familial balanced inverted insertion ins(15)(q15q13q11.2) producing Prader–Willi syndrome, Angelman syndrome and duplication of 15q11.2‐q13 in a single family: Importance of differentiation from a paracentric inversion

  2004cites this paper
• syndrome resulting from DNA deletion . Clinical features in 27 patients with Angelman

  2004cites this paper
• Autism and 15q11-q13 disorders: behavioral, genetic, and pathophysiological issues.

  2004cites this paper
• A linkage disequilibrium map of the 1‐Mb 15q12 GABAA receptor subunit cluster and association to autism

  2004cites this paper
• Partial duplication of the APBA2 gene in chromosome 15q13 corresponds to duplicon structures

  2003cites this paper
• Angelman syndrome: a review of the clinical and genetic aspects

  2003cites this paper
• Genetic and clinical characterization of patients with an interstitial duplication 15q11‐q13, emphasizing behavioral phenotype and response to treatment

  2003cites this paper
• A supernumerary marker chromosome 15 tetrasomic for the Prader-Willi/Angelman syndrome critical region in a patient with a severe phenotype

  2003cites this paper
• Genetic changes of chromosome region 15q11-q13 in Prader-Willi and Angelman syndromes in Finland

  2003cites this paper
• Use of Enhanced Natural Gestures to Foster Interactions Between Children With Angelman Syndrome and Their Parents

  2002cites this paper
• Should the chromosome region 15q11q13 be tested systematically by FISH in the case of an autistic‐like syndrome?

  2002cites this paper
• Duplication of 15q11.2-q14, including the P gene, in a woman with generalized skin hyperpigmentation.

  2001cites this paper
• Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14

  2001cites this paper
• The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders.

  2001cites this paper
• Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families.

  2001cites this paper
• Structure of the highly conserved HERC2 gene and of multiple partially duplicated paralogs in human.

  2000cites this paper
• Structure of chromosomal duplicons and their role in mediating human genomic disorders.

  2000cites this paper
• Molecular determination of X inactivation pattern correlates with phenotype in women with a structurally abnormal X chromosome

  2000cites this paper
• Characteristics of two cases with dup(15) (q 11.2-q 12): one of maternal and one of paternal origin

  2000cites this paper
• Paternally derived de novo interstitial duplication of proximal 15q in a patient with developmental delay.

  1999cites this paper
• Duplication within chromosome region 15q11-q13 in a patient with similarities to Prader-Willi syndrome confirmed by region-specific and band-specific fish.

  1999cites this paper
• Mosaic normal/15q11-q13 duplication associated with developmental delay but normal phenotype.

  1999cites this paper
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  1999cites this paper
• Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.

  1999cites this paper
• Themechanisms involved information of deletions andduplications of15q11-q13

  1998cites this paper
• Interstitial duplications of chromosome region 15q11q13: clinical and molecular characterization.

  1998influential citation
• The mechanisms involved in formation of deletions and duplications of 15q11-q13.

  1998cites this paper
• Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay.

  1998cites this paper
• The evaluation of 15q proximal duplications by FISH

  1998cites this paper
• Unusual features in children with inv dup(15) supernumerary marker: a study of genotype-phenotype correlation in Taiwan

  1998influential citation
• Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations.

  1997cites this paper
• Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome.

  1997cites this paper
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  1997cites this paper
• Case Report: Partial trisomy of 15q due to inserted inverted duplication

  1997cites this paper
• Inherited DNA amplification of the proximal 15q region: cytogenetic and molecular studies.

  1997cites this paper
• Prader-Willi syndrome.

  1997cites this paper
• Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.

  1996cites this paper
• Why is there no diploid overdose effect in Prader-Willi syndrome due to uniparental disomy?

  1996cites this paper
• Psychiatric disorder in a familial 15;18 translocation and sublocalization of myelin basic protein of 18q22.3.

  1996cites this paper
• t(15;21)(q15;q22.1) pat resulting in partial trisomy and partial monosomy of chromosomes 15 and 21 in two offspring.

  1996cites this paper
• Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis

  1995cites this paper
• Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients.

  1995cites this paper
• The lower extremity manifestations of Prader-Willi syndrome.

  1995cites this paper
• A case of autism associated with partial tetrasomy 15

  1995cites this paper
• Simultaneous Formation of inv dup(15) and dup(15q) in a Girl with Developmental Delay: Origin of the Abnormal Chromosomes

  1995cites this paper
• Comparison of high resolution cytogenetics, fluorescence in situ hybridisation, and DNA studies to validate the diagnosis of Prader-Willi and Angelman's syndromes.

  1995cites this paper
• Intrachromosomal triplication of 15q11-q13.

  1994cites this paper
• Duplication of the 15q11‐13 Region in a Patient with Autism, Epilepsy and Ataxia

  1994cites this paper
• Form of 15q proximal duplication appears to be a normal euchromatic variant.

  1994cites this paper
• Intrachromosomal triplication of 15q1 1-q3

  year unknowncites this paper
• Intrachromosomal triplication of 15 q 1 1q 3

  year unknowncites this paper