Breakpoint Associated with a novel 2.3 Mb deletion in the VCFS region of 22q11 and the role of Alu (SINE) in recurring microdeletions (Q25257898)

1

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Yang Zhang

2

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Victoria Mok Siu

3

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Yao-Shan Fan

4

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Richard L O'Reilly

5

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Jay Rao

6

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Shiva M Singh

Genomic disorders on 22q11

7

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language of work or name

English

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publication date

2006

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published in

BMC Medical Genetics

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volume

7

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issue

1

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page(s)

18

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cites work

1 reference

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Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.

7 April 2017

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22q11 DS: genomic mechanisms and gene function in DiGeorge/velocardiofacial syndrome

7 April 2017

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Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

7 April 2017

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A common molecular basis for rearrangement disorders on chromosome 22q11

7 April 2017

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Site-specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunction

7 April 2017

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A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome

7 April 2017

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Recent segmental duplications in the human genome

7 April 2017

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Alu repeats and human genomic diversity

7 April 2017

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Genome architecture, rearrangements and genomic disorders

7 April 2017

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Alu repeats and human disease

7 April 2017

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Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu-mediated recombination events during evolution

7 April 2017

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The role of Alu repeat clusters as mediators of recurrent chromosomal aberrations in tumors

28 September 2017

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Velo-cardio-facial syndrome: a model for understanding the genetics and pathogenesis of schizophrenia

28 September 2017

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Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review

28 September 2017

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The 22q11 deletion syndromes

28 September 2017

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Velo-cardio-facial syndrome: a distinctive behavioral phenotype

28 September 2017

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A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23

28 September 2017

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Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints

28 September 2017

1 reference

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Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

28 September 2017

1 reference

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Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients

28 September 2017

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Developmental genetics of the heart

28 September 2017

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Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis

28 September 2017

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Velo-cardio-facial syndrome and psychotic disorders: implications for psychiatric genetics

28 September 2017

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Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome

28 September 2017

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The "cat eye syndrome": dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture

28 September 2017

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Bipolar spectrum disorders in patients diagnosed with velo-cardio-facial syndrome: does a hemizygous deletion of chromosome 22q11 result in bipolar affective disorder?

28 September 2017

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The organization of the gamma-glutamyl transferase genes and other low copy repeats in human chromosome 22q11.

28 September 2017

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Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11.

31 May 2018

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High rates of schizophrenia in adults with velo-cardio-facial syndrome.

31 May 2018

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Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11.

21 January 2018

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A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element.

21 January 2018

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Integration of cytogenetic landmarks into the draft sequence of the human genome

21 January 2018

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DiGeorge syndrome and 22q11 rearrangements

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16512914

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Simple repetitive DNA sequences from primates: compilation and analysis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16512914

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Novel rearrangement of chromosome band 22q11.2 causing 22q11 microdeletion syndrome-like phenotype and rhabdoid tumor of the kidney

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16512914

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2350-7-18

1 reference

Dimensions Publication ID

3367575

1049104572

0 references

3367575

1 reference

1 reference

1 reference