(Q53333704)

13 May 2018

title

Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results. (English)

1 reference

13 May 2018

author

Chad Shaw

2

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13 May 2018

James R. Lupski

12

object named as

James R Lupski

1 reference

13 May 2018

Pawel Stankiewicz

10

object named as

Pawel Stankiewicz

1 reference

13 May 2018

Sung-Hae L Kang

1

object named as

Sung-Hae L Kang

1 reference

13 May 2018

4

Patricia A Eng

1 reference

13 May 2018

9

A Craig Chinault

1 reference

13 May 2018

8

Carlos A Bacino

1 reference

13 May 2018

13

Sau Wai Cheung

1 reference

13 May 2018

Zhishuo Ou

3

1 reference

13 May 2018

M Lance Cooper

5

1 reference

13 May 2018

Amber N Pursley

6

1 reference

13 May 2018

Trilochan Sahoo

7

1 reference

13 May 2018

Ankita Patel

11

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13 May 2018

language of work or name

English

0 references

publication date

1 May 2010

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13 May 2018

American Journal of Medical Genetics

published in

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13 May 2018

volume

152A

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13 May 2018

issue

5

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13 May 2018

page(s)

1111-1126

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13 May 2018

describes a project that uses

fluorescence in situ hybridization

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Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome

inferred from title

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726029

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726029

Increased LIS1 expression affects human and mouse brain development

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726029

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726029

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726029

Syndromic thrombocytopenia and predisposition to acute myelogenous leukemia caused by constitutional microdeletions on chromosome 21q.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726029

Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726029

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726029

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726029

Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726029

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726029

Pure partial trisomy of 6p12.1-p22.1 secondary to a familial 12/6 insertion in two malformed babies

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726029

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726029

Structural variation in the human genome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726029

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726029

Interchromosomal insertions. Identification of five cases and a review

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726029

Partial V(D)J recombination activity leads to Omenn syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726029

RAG mutations in human B cell-negative SCID.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726029

Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726029

Expansion in size of a terminal deletion: a paradigm shift for parental follow-up studies

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726029

Deletion of 7q31.1 supports involvement of FOXP2 in language impairment: clinical report and review

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726029

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726029

Array-based genomic delineation of a familial duplication 11q14.1-q22.1 associated with recurrent depression

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726029

A father and son with mental retardation, a characteristic face, inv(12), and insertion trisomy 12p12.3-p11.2.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726029

Trisomy of chromosome 16p13.3 due to an unbalanced insertional translocation into chromosome 22p13.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726029

Array CGH detection of a cryptic deletion in a complex chromosome rearrangement.

13 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3726029

Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett 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=3726029

De novo complex chromosomal rearrangement (CCR) in a severely mentally retarded boy

13 August 2018

1 reference

12 December 2020

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

1 reference

12 December 2020

Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation

1 reference

12 December 2020

Familial insertion (3;5)(q25.3;q22.1q31.3) with deletion or duplication of chromosome region 5q22.1-5q31.3 in ten unbalanced carriers

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.33278

1 reference

13 May 2018

PMC publication ID

3726029

1 reference

13 May 2018

PubMed publication ID

20340098

1 reference

13 May 2018