Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder (Q35257406)

7 August 2017

title

Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder (English)

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7 August 2017

main subject

autism spectrum disorder

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7 August 2017

Marion Leboyer

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Richard Delorme

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Christopher Gillberg

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7 August 2017

Pierre Bitoun

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Sandrine Passemard

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7 August 2017

Alain Verloes

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7 August 2017

Delphine Héron

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7 August 2017

Jean-Pierre Siffroi

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7 August 2017

Anne-Claude Tabet

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7 August 2017

Marion Pilorge

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7 August 2017

Elsa Delaby

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7 August 2017

Gudrun Nygren

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7 August 2017

Françoise Devillard

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7 August 2017

Marion Gérard

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7 August 2017

Aurelia Jacquette

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7 August 2017

Andrée Delahaye

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7 August 2017

Laurence Perrin

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7 August 2017

Céline Dupont

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7 August 2017

Azzedine Aboura

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7 August 2017

Mary Coleman

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7 August 2017

Brigitte Benzacken

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7 August 2017

publication date

25 March 2015

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7 August 2017

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7 August 2017

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7 August 2017

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Creative Commons Attribution 4.0 International

7 August 2017

start time

25 March 2015

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April 2022 Public Data File from Crossref

copyrighted

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cites work

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A de novo 8.8-Mb deletion of 21q21.1-q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21.

12 July 2018

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12 July 2018

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12 July 2018

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Submicroscopic duplication of the Wolf-Hirschhorn critical region with a 4p terminal deletion.

12 July 2018

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12 July 2018

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12 July 2018

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Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort

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Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

12 July 2018

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Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project

12 July 2018

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Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

12 July 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

12 July 2018

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Prenatal detection of a de novo terminal inverted duplication 4p in a fetus with the Wolf-Hirschhorn syndrome phenotype

12 July 2018

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Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter

12 July 2018

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The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes

12 July 2018

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

12 July 2018

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The transcription factor RFX3 directs nodal cilium development and left-right asymmetry specification

12 July 2018

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12 July 2018

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12 July 2018

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12 July 2018

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12 July 2018

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12 July 2018

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12 July 2018

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Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations.

12 July 2018

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A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features.

26 September 2018

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Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems

26 September 2018

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American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

26 September 2018

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Microduplication of 4p16.3 due to an unbalanced translocation resulting in a mild phenotype.

26 September 2018

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Cognitive‐behavioral features of Wolf–Hirschhorn syndrome and other subtelomeric microdeletions

26 September 2018

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

26 September 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

Duplication of the Wolf-Hirschhorn syndrome critical region causes neurodevelopmental delay.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

U-type exchange is the most frequent mechanism for inverted duplication with terminal deletion rearrangements.

26 September 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders

26 September 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpoints

26 September 2018

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A deficiency in RFX3 causes hydrocephalus associated with abnormal differentiation of ependymal cells.

26 September 2018

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Clinical and molecular characterization of individuals with 18p deletion: a genotype-phenotype correlation.

26 September 2018

1 reference

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Classical West "syndrome" phenotype with a subtelomeric 4p trisomy.

26 September 2018

1 reference

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Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map.

26 September 2018

1 reference

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Inv dup del(4)(:p14 --> p16.3::p16.3 --> qter) with manifestations of partial duplication 4p and Wolf-Hirschhorn syndrome.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

Inv dup del(4)(:p13-->p16.3::p16.3-->qter) in a girl without typical manifestations of Wolf-Hirschhorn syndrome

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4384291

Pericentric inversions in man. A French collaborative study. Groupe de Cytogénéticiens Français

26 September 2018

1 reference

12 December 2020

Loss of subtelomeric sequence associated with a terminal inversion duplication of the short arm of chromosome 4

1 reference

12 December 2020

A family with partial duplication/deletion 4p due to a balanced t (4; 15) (p16.2; p11.2) translocation

1 reference

12 December 2020

Investigation of the origins of human autosomal inversions

1 reference

12 December 2020

Segregation of a 4p16.3 duplication with a characteristic appearance, macrocephaly, speech delay and mild intellectual disability in a 3-generation family

1 reference

12 December 2020

Telomere capture as a frequent mechanism for stabilization of the terminal chromosomal deletion associated with inverted duplication

1 reference

12 December 2020

10.1186/S13229-015-0015-2

Identifiers

DOI

1 reference

Dimensions Publication ID

7 August 2017

0 references

1 reference

7 August 2017

1 reference