Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism. (Q53806649)

19 May 2018

title

Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism. (English)

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19 May 2018

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12

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19 May 2018

Marion Leboyer

object named as

Marion Leboyer

9

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author name string

Françoise Devillard

1

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19 May 2018

Vincent Guinchat

2

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19 May 2018

Daniel Moreno-De-Luca

3

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19 May 2018

Anne-Claude Tabet

4

1 reference

19 May 2018

Nicolas Gruchy

5

1 reference

19 May 2018

Pascale Guillem

6

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19 May 2018

Marie-Ange Nguyen Morel

7

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19 May 2018

Nathalie Leporrier

8

1 reference

19 May 2018

Pierre-Simon Jouk

10

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19 May 2018

James Lespinasse

11

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19 May 2018

language of work or name

English

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publication date

1 September 2010

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19 May 2018

American Journal of Medical Genetics

published in

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19 May 2018

volume

152A

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19 May 2018

issue

9

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19 May 2018

page(s)

2346-2354

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19 May 2018

Population analysis of large copy number variants and hotspots of human genetic disease

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22 May 2018

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Structural variation of chromosomes in autism spectrum disorder

22 May 2018

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Chromosome 2q37 deletion: clinical and molecular aspects

22 May 2018

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Strong association of de novo copy number mutations with autism

22 May 2018

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Mapping autism risk loci using genetic linkage and chromosomal rearrangements

22 May 2018

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qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data

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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Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities

22 May 2018

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Pervasive developmental disorders in preschool children: confirmation of high prevalence

22 May 2018

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Evaluation of the chromosome 2q37.3 gene CENTG2 as an autism susceptibility gene

22 May 2018

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Cytogenetic abnormalities and fragile-X syndrome in Autism Spectrum Disorder

22 May 2018

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Autism as a paradigmatic complex genetic disorder

22 May 2018

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Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes

22 May 2018

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Chromosomal anomalies in individuals with autism: a strategy towards the identification of genes involved in autism.

22 May 2018

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Molecular genetic delineation of 2q37.3 deletion in autism and osteodystrophy: report of a case and of new markers for deletion screening by PCR.

22 May 2018

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Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis

22 May 2018

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Deletion of chromosome 2q37 and autism: a distinct subtype?

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4906125

Clinical phenotype associated with terminal 2q37 deletion.

22 May 2018

1 reference

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Paracentric inversions: a review

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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Paracentric inversions in humans: a review of 446 paracentric inversions with presentation of 120 new cases

22 May 2018

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Deletion 2q37: an identifiable clinical syndrome with mental retardation and autism.

22 May 2018

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Array-CGH analysis and clinical description of 2q37.3 de novo subtelomeric 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=4906125

Systematic screening for subtelomeric anomalies in a clinical sample of 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=4906125

Screening of subtelomeric rearrangements in autistic disorder: identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4906125

The yield of subtelomeric FISH analysis in the evaluation of autistic spectrum disorders

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4906125

A new case of 2q duplication supports either a locus for orofacial clefting between markers D2S1897 and D2S2023 or a locus for cleft palate only on chromosome 2q13-q21.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4906125

Terminal 2q37 deletion and autistic behaviour.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4906125

Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4906125

Pilot assessment of the subtelomeric regions of children with autism: detection of a 2q 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=4906125

FARP2, HDLBP and PASK are downregulated in a patient with autism and 2q37.3 deletion 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=4906125

Paracentric inversions in man

30 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20684015

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Noonan-like phenotype in monozygotic twins with a duplication-deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversion

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20684015

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Reproductive risks for paracentric inversion heterozygotes: Inversion or insertion? That is the question

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20684015

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/AJMG.A.33601

1 reference

19 May 2018

PMC publication ID

4906125

1 reference

19 May 2018

PubMed publication ID

20684015

1 reference

19 May 2018