(Q35434123)

8 August 2017

title

Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH. (English)

1 reference

8 August 2017

Stankiewicz P

1

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8 August 2017

Bocian E

2

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8 August 2017

Jakubów-Durska K

3

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8 August 2017

Obersztyn E

4

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8 August 2017

Lato E

5

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8 August 2017

Starke H

6

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8 August 2017

Mroczek K

7

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8 August 2017

Mazurczak T

8

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8 August 2017

language of work or name

English

0 references

publication date

1 February 2000

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Journal of Medical Genetics

8 August 2017

published in

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8 August 2017

volume

37

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8 August 2017

issue

2

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8 August 2017

page(s)

114-120

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describes a project that uses

8 August 2017

fluorescence in situ hybridization

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

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=1734527

Rapid identification of multiple supernumerary ring chromosomes with a new FISH technique

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734527

A molecular and FISH approach to determining karyotype and phenotype correlations in six patients with supernumerary marker(22) chromosomes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734527

Prenatal diagnosis of a half-cryptic translocation using chromosome microdissection

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734527

Proximal partial 5p trisomy resulting from a maternal (19;5) insertion

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734527

Supernumerary ring chromosome 20 characterized by fluorescence in situ hybridization

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734527

Two supernumerary marker chromosomes, derived from chromosome 6 and 9, in a boy with mild developmental delay.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734527

A new case of partial trisomy 19q (q13.2-->qter) owing to an unusual maternal translocation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734527

Partial trisomy for short arm of chromosome 5.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734527

Characterization of supernumerary ring marker chromosomes by fluorescence in situ hybridization (FISH).

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734527

Down syndrome phenotypes: the consequences of chromosomal imbalance

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734527

Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734527

Molecular mapping of twenty-four features of Down syndrome on chromosome 21.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734527

Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734527

Molecular characterization of the marker chromosome associated with cat eye syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734527

Identification of marker chromosomes in thirteen patients using FISH probing

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734527

An accessory marker derived from chromosome 20 and its co-existence with a mosaic trisomy 20 cell line

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734527

Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734527

Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734527

Forty four probands with an additional "marker" chromosome.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734527

Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734527

Pure partial trisomy of the short arm of chromosome 5.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734527

Clinical, cytogenetic, and molecular evaluation of a patient with partial trisomy 21 (21q11-q22) lacking the classical Down syndrome phenotype

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734527

Clinical, cytogenetic, and molecular genetic characterization of two unrelated patients with different duplications of 21q.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734527

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734527

De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734527

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734527

Typical and partial cat eye syndrome: identification of the marker chromosome by FISH

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734527

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734527

Trisomy for the distal third of the long arm of chromosome 19 in brother and sister

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734527

Inverted duplication of chromosome 5p14p15.3 confirmed with in situ hybridization.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734527

Molecular cytogenetic and clinical studies of 42 patients with marker chromosomes

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734527

Characterization of the supernumerary chromosome in cat eye syndrome

15 November 2018

1 reference

12 December 2020

Familial partial trisomy 5p resulting from segregation of an insertional translocation

1 reference

12 December 2020

[Proximal trisomy 19q. Interstitial deletion and ring chromosome derived from 19q]

1 reference

12 December 2020

Clinical heterogeneity in 16 patients with inv dup 15 chromosome: cytogenetic and molecular studies, search for an imprinting effect

1 reference

12 December 2020

1 reference

12 December 2020

Identification of supernumerary der(20) chromosomes by FISH in three patients

1 reference

12 December 2020

FISH and molecular study of autosomal supernumerary marker chromosomes excluding those derived from chromosomes 15 and 22: I. Results of 26 new cases

1 reference

12 December 2020

A study of ten small supernumerary (marker) chromosomes identified by fluorescence in situ hybridization (FISH)

1 reference

12 December 2020

Clinical findings in patients with marker chromosomes identified by fluorescence in situ hybridization

1 reference

12 December 2020

Molecular cytogenetic study of supernumerary marker chromosomes in an unselected group of children

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.37.2.114

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8 August 2017

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8 August 2017

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