A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1-q12.1 in a healthy man. (Q38286655)

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7 January 2020

title

A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1-q12.1 in a healthy man (English)

1 reference

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Maria Luisa Martinez-Fernandez

7 January 2020

author

3

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7 January 2020

author name string

Laura Rodríguez

1

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7 January 2020

Tomas Liehr

2

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7 January 2020

Ana Lara

4

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7 January 2020

Antonio Torres

5

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7 January 2020

María Luisa Martínez-Frías

6

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7 January 2020

publication date

2 April 2008

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7 January 2020

published in

Molecular Cytogenetics

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7 January 2020

volume

1

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7 January 2020

page(s)

4

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New immortalized cell lines of patients with small supernumerary marker chromosome: towards the establishment of a cell bank

7 January 2020

cites work

1 reference

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Directly transmitted unbalanced chromosome abnormalities and euchromatic variants

6 September 2017

1 reference

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Small supernumerary marker chromosomes (sSMC) in humans

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2375880

A new hereditary cylindromatosis family associated with CYLD1 on chromosome 16

6 September 2017

1 reference

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Characterization of a partial trisomy 16q with FISH. Report of a patient and review of the literature

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2375880

Human smooth muscle myosin heavy chain gene mapped to chromosomal region 16q12

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2375880

Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2375880

Small marker chromosomes in man: origin from pericentric heterochromatin of chromosomes 1, 9, and 16

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2375880

Direct duplication 16q11.1----16q13 is not associated with a typical dysmorphic syndrome

6 September 2017

1 reference

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Chromosomal origin of small ring marker chromosomes in man: characterization by molecular genetics

6 September 2017

1 reference

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A non-isotopic in situ hybridisation study of the chromosomal origin of 15 supernumerary marker chromosomes in man

6 September 2017

1 reference

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FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2375880

Routine use of methods for improved G-band resolution in a population of patients with malformations and developmental delay

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2375880

Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2375880

Prenatal diagnosis and molecular cytogenetic characterisation of a small de novo interstitial duplication 16q11.2-q13.

31 August 2018

1 reference

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Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13.

31 August 2018

1 reference

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Molecular cytogenetic characterization of an acquired minute supernumerary marker chromosome as the sole abnormality in a case clinically diagnosed as atypical Philadelphia-negative chronic myelogenous leukaemia.

31 August 2018

1 reference

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Direct intrachromosomal duplication of 16q and heritable fragile site fra (10) (q25) in the same patient.

31 August 2018

1 reference

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Small supernumerary marker chromosomes – progress towards a genotype-phenotype correlation

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2375880

Duplications of proximal 16q flanked by heterochromatin are not euchromatic variants and show no evidence of heterochromatic position effect

3 December 2018

1 reference

12 December 2020

Prenatal supernumerary r(16) chromosome characterized by multiprobe FISH with normal pregnancy outcome

1 reference

12 December 2020

Sequences flanking the centromere of human chromosome 10 are a complex patchwork of arm-specific sequences, stable duplications and unstable sequences with homologies to telomeric and other centromeric locations

1 reference

12 December 2020

Rapid identification of a small dicentric supernumerary marker derived from chromosome 16 with a modified FISH technique on amniotic fluid

1 reference

12 December 2020

Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification

1 reference

12 December 2020

A physical map of the chromosome 12 centromere

1 reference

12 December 2020

Another small supernumerary marker chromosome (sSMC) derived from chromosome 2: towards a genotype/phenotype correlation

1 reference

12 December 2020

Identifiers

DOI

10.1186/1755-8166-1-4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18471313%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

7 January 2020

0 references

1 reference

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7 January 2020

PubMed publication ID

18471313

1 reference