(Q73356687)

English

A half cryptic derivative der(18)t(5;18)pat identified by M-FISH and subtelomere probes: clinical findings and review of subtelomeric rearrangements

scientific article published on 01 October 1999

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scholarly article

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3 November 2019

A half cryptic derivative der(18)t(5;18)pat identified by M-FISH and subtelomere probes: clinical findings and review of subtelomeric rearrangements (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10636453%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

author name string

K S Reddy

1

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3 November 2019

J K Fugate

2

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3 November 2019

publication date

1 October 1999

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3 November 2019

Clinical Genetics

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3 November 2019

56

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3 November 2019

4

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3 November 2019

328-332

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Europe PubMed Central

PubMed publication ID

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3 November 2019

Case report: denovo inherited 18p deletion in a mother-fetus pair with extremely variable expression, confirmed by fluorescence in situ hybridization (FISH) analysis

1 reference

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7 January 2021

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Del(18p) shown to be a cryptic translocation using a multiprobe FISH assay for subtelomeric chromosome rearrangements

1 reference

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Ulerythema ophryogenes and keratosis pilaris in a child with monosomy 18p.

1 reference

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

1 reference

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A case report of a de novo tandem duplication (5p) (p14----pter)

1 reference

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7 January 2021

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The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

1 reference

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Microdeletion of chromosome sub-band 2q37.3 in two patients with abnormal situs viscerum

1 reference

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Detection of breakpoints in submicroscopic chromosomal translocation, illustrating an important mechanism for genetic disease

1 reference

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Identification of a cryptic t(5;7) reciprocal translocation by fluorescent in situ hybridization

1 reference

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7 January 2021

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Familial Wolf-Hirschhorn syndrome resulting from a cryptic translocation: a clinical and molecular study

1 reference

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7 January 2021

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Miller-Dieker syndrome. Detection of a cryptic chromosome translocation using in situ hybridization in a family with multiple affected offspring

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560412.X

7 January 2021

based on heuristic

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Familial half cryptic translocation t(9;17).

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560412.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Miller-Dieker syndrome due to maternal cryptic translocation t(10;17) (q26.3;p13.3)

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Prenatal and postnatal investigation of a case with Miller-Dieker syndrome due to a familial cryptic translocation t(17;20) (p13.3;q13.3) detected by fluorescence in situ hybridization

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560412.X

7 January 2021

based on heuristic

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Severe hemophilia A in a female by cryptic translocation: order and orientation of factor VIII within Xq28.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560412.X

7 January 2021

based on heuristic

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Fetal t(5p;21q) misdiagnosed as monosomy 21: a plea for in situ hybridization studies

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560412.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of an unbalanced cryptic translocation t(9;17)(q34.3;p13.3) in a child with dysmorphic features

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560412.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Detection of a familial cryptic translocation by fluorescent in situ hybridisation

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560412.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Monosomy 1p36.31-33-->pter due to a paternal reciprocal translocation: prognostic significance of FISH analysis

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560412.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular-cytogenetic detection of a deletion of 1p36.3.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560412.X

7 January 2021

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A large family with subtelomeric translocation t(18;21)(q23;q22.1) and molecular breakpoint in the Down syndrome critical region

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560412.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients

1 reference

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7 January 2021

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inferred from DOI database lookup

High resolution chromosome analysis and in situ hybridization on amniotic fluid for diagnosis of a cryptic translocation

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560412.X

7 January 2021

based on heuristic

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Identification of cryptic rearrangements in patients with 18q- deletion syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560412.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Two 22q telomere deletions serendipitously detected by FISH

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560412.X

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A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation

1 reference

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7 January 2021

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A paternally inherited terminal deletion, del(8)(p23.1)pat, detected prenatally in an amniotic fluid sample: a review of deletion 8p23.1 cases

1 reference

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Identifiers

10.1034/J.1399-0004.1999.560412.X

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10636453%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10636453%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

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