Autism, language delay and mental retardation in a patient with 7q11 duplication (Q51905266)

17 April 2018

case report

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title

Autism, language delay and mental retardation in a patient with 7q11 duplication. (English)

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17 April 2018

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3

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Marion Leboyer

9

object named as

M Leboyer

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C Depienne

1

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D Heron

2

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B Benyahia

4

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O Trouillard

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D Bouteiller

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A Verloes

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E LeGuern

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A Brice

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language of work or name

English

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publication date

30 March 2007

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17 April 2018

Journal of Medical Genetics

published in

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17 April 2018

volume

44

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17 April 2018

issue

7

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17 April 2018

page(s)

452-458

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17 April 2018

Williams-Beuren syndrome: determination of deletion size using quantitative real-time PCR.

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Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

22 May 2018

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Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes

22 May 2018

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Prevalence of psychiatric disorders in 4 to 16-year-olds with Williams syndrome

22 May 2018

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Neural mechanisms in Williams syndrome: a unique window to genetic influences on cognition and behaviour

22 May 2018

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GTF2IRD1 in craniofacial development of humans and mice

22 May 2018

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Severe expressive-language delay related to duplication of the Williams-Beuren locus

22 May 2018

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Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism

22 May 2018

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Pragmatic language impairment and social deficits in Williams syndrome: a comparison with Down's syndrome and specific language impairment

22 May 2018

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Williams-Beuren syndrome: a challenge for genotype-phenotype correlations

22 May 2018

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Partial deletion of the critical 1.5 Mb interval in Williams-Beuren syndrome

22 May 2018

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Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23

22 May 2018

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Mutational mechanisms of Williams-Beuren syndrome deletions

22 May 2018

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Targeted mutation of Cyln2 in the Williams syndrome critical region links CLIP-115 haploinsufficiency to neurodevelopmental abnormalities in mice

22 May 2018

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Prevalence estimation of Williams syndrome

22 May 2018

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Genetics of austim: complex aetiology for a heterogeneous disorder

22 May 2018

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Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes

22 May 2018

1 reference

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Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion

22 May 2018

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22 May 2018

Autism and hearing loss

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Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes

22 May 2018

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A duplicated gene in the breakpoint regions of the 7q11.23 Williams- Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK

22 May 2018

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Brief report: four case histories and a literature review of Williams syndrome and autistic behavior

22 May 2018

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Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders

22 May 2018

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Autism associated with Williams syndrome

22 May 2018

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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.

22 May 2018

1 reference

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Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994965

An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994965

Autism and Williams syndrome: a case report

13 August 2018

1 reference

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Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994965

Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions

13 August 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994965

Aversion, awareness, and attraction: investigating claims of hyperacusis in the Williams syndrome phenotype

13 August 2018

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GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region.

13 August 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994965

Unusual cognitive and behavioural profile in a Williams syndrome patient with atypical 7q11.23 deletion.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994965

Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994965

High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1994965

Prenatal detection of the 17p11.2 duplication in Charcot-Marie-Tooth disease type 1A: necessity of a multidisciplinary approach for heterogeneous disorders

13 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17400790

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17400790

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17400790

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.2006.047092

1 reference

17 April 2018

PMC publication ID

1994965

1 reference

17 April 2018

PubMed publication ID

17400790

1 reference

17 April 2018