Co‐occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: Modification of the Wolf–Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith–Wiedemann or Russell–Silver phenotype

No abstract is available for this paper.

• Publication year

  2008

• Venue

  American Journal of Medical Genetics. Part A

• Publication date

  2008-10-15

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1002/ajmg.a.32516PMID 18798325
• 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.

• Russell-Silver Syndrome

  2020cited by this paper
• Beckwith-Wiedemann syndrome

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• Comprehensive analysis of Wolf–Hirschhorn syndrome using array CGH indicates a high prevalence of translocations

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• Wolf–Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16

  2008cited by this paper
• Overlapping phenotype of Wolf–Hirschhorn and Beckwith–Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter)

  2007cited by this paper
• Universal moral grammar: theory, evidence and the future.

  2007cited by this paper
• Wolf–Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16

  2007cited by this paper
• Two unique patients with novel microdeletions in 4p16.3 that exclude the WHS critical regions: Implications for critical region designation

  2007cited by this paper
• The centromeric 11p15 imprinting centre is also involved in Silver–Russell syndrome

  2006cited by this paper
• (Epi)mutations in 11p15 significantly contribute to Silver-Russell syndrome: but are they generally involved in growth retardation?

  2006cited by this paper
• Molecular and genomic characterisation of cryptic chromosomal alterations leading to paternal duplication of the 11p15.5 Beckwith-Wiedemann region

  2006cited by this paper
• A new genomic mechanism leading to cri‐du‐chat syndrome

  2006cited by this paper
• Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain

  2005cited by this paper
• Beckwith–Wiedemann syndrome

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• Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome

  2005cited by this paper
• Is maternal duplication of 11p15 associated with Silver-Russell syndrome?

  2005cited by this paper
• 4p terminal deletion and 11p subtelomeric duplication detected by genomic microarray in a patient with Wolf-Hirschhorn syndrome and an atypical phenotype.

  2004cited by this paper
• Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.

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• Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation

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• Wolf-Hirschhorn (4p-) syndrome.

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• Hemiplegic cerebral palsy and the factor V Leiden mutation

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• The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria

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• Russell-Silver syndrome.

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• Russell-Silver syndrome

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• Wolf‐Hirschhorn (4p‐) Syndrome

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• Detection of 4p16.3 deletion and 11p15.5p15.4 gain in a boy by comparative genomic hybridization array: A case report

  2024cites this paper
• Clinical and Molecular Heterogeneity of Silver Russell Syndrome and Therapeutic Challenges: A Systematic Review.

  2022cites this paper
• First Report of a Derivative Chromosome 13 with a Duplicated 11p15 Locus Associated with Silver-Russell Syndrome

  2022cites this paper
• 核型46, XY, der（18）t（11;18）（p15.3;q21.1）を示したBeckwith-Wiedemann症候群の1例

  2021cites this paper
• 22q11.2 Deletion Syndrome in Colombian Patients With Syndromic Cleft Lip and/or Palate

  2019cites this paper
• 22 q 11 . 2 Deletion Syndrome in Colombian Patients With Syndromic Cleft Lip and / or Palate

  2018cites this paper
• Structural and sequence variants in patients with Silver‐Russell syndrome or similar features—Curation of a disease database

  2018cites this paper
• Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes

  2017cites this paper
• NSD1 duplication in Silver–Russell syndrome (SRS): molecular karyotyping in patients with SRS features

  2017cites this paper
• Cdkn1c Boosts the Development of Brown Adipose Tissue in a Murine Model of Silver Russell Syndrome

  2016cites this paper
• Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology

  2016cites this paper
• Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders

  2015cites this paper
• Familial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann Syndromes

  2015cites this paper
• Chromosomal rearrangements in patients with clinical features of Silver–Russell syndrome

  2014cites this paper
• Silver–Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C

  2014cites this paper
• Diagnosis of Familial Wolf-Hirschhorn Syndrome due to a Paternal Cryptic Chromosomal Rearrangement by Conventional and Molecular Cytogenetic Techniques

  2013cites this paper
• Co‐existence of 9p deletion and Silver‐Russell syndromes in a patient with maternally inherited cryptic complex chromosome rearrangement involving chromosomes 4, 9, and 11

  2013cites this paper
• Mouse model implicates GNB3 duplication in a childhood obesity syndrome

  2013cites this paper
• A recurrent translocation is mediated by homologous recombination between HERV-H elements

  2012cites this paper
• Human diseases versus mouse models: insights into the regulation of genomic imprinting at the human 11p15/mouse distal chromosome 7 region

  2012cites this paper
• Maternal gametic transmission of translocations or inversions of human chromosome 11p15.5 results in regional DNA hypermethylation and downregulation of CDKN1C expression.

  2012cites this paper
• A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the ZNF214 gene

  2012cites this paper
• Growth profiles of 34 patients with Wolf-Hirschhorn syndrome

  2012cites this paper
• Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver–Russell syndrome

  2011influential citation
• Estudo genético da síndrome de Silver-Russell

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• Silver-Russell-Kleinwuchs

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• Microduplication of the ICR 2 Domain at Chromosome 11 p 15 and Familial Silver – Russell Syndrome

  2011influential citation
• Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.

  2011cites this paper
• Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome Phenotypes Associated with 11p Duplication in a Single Family

  2010cites this paper
• Chromosome 11p15 duplication in Silver‐Russell syndrome due to a maternally inherited translocation t(11;15)

  2010cites this paper
• Russell–Silver syndrome

  2010cites this paper
• Beckwith–Wiedemann syndrome

  2010cites this paper
• Breakpoint mapping and haplotype analysis of three reciprocal translocations identify a novel recurrent translocation in two unrelated families: t(4;11)(p16.2;p15.4)

  2009influential citation
• Aberrant genomic imprinting in chromosome 11p15-associated congenital growth disorders : consequences for DNA-diagnostics

  2009cites this paper
• Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions.

  2009cites this paper