(Q34561455)

3 August 2017

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title

Delineation of the dup5q phenotype by molecular cytogenetic analysis in a patient with dup5q/del 5p (cri du chat). (English)

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3 August 2017

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Brynn Levy

1

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3 August 2017

Teresa M Dunn

2

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3 August 2017

Jeffrey H Kern

3

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3 August 2017

Kurt Hirschhorn

4

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3 August 2017

Nataline B Kardon

5

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3 August 2017

publication date

1 March 2002

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American Journal of Medical Genetics Part A

3 August 2017

published in

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3 August 2017

volume

108

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3 August 2017

issue

3

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3 August 2017

page(s)

192-197

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Distal 5q trisomy resulting from an X;5 translocation detected by chromosome painting

3 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10261

Paternal duplication of chromosome 5q11.2-5q14 in a male born with craniostenosis, ear tags, kidney dysplasia and several other anomalies

21 January 2018

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The trisomy (5)(q31-qter) syndrome: study of a family with a t(5:14) translocation

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Analysis of antifading reagents for fluorescence microscopy

21 January 2018

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A yeast artificial chromosome contig of the critical region for cri-du-chat syndrome

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Precise identification of various chromosomal abnormalities.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10261

Partial duplication of the long arm of chromosome 5: A case due to balanced paternal translocation and review of the literature

21 January 2018

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Optimizing comparative genomic hybridization for analysis of DNA sequence copy number changes in solid tumors

21 January 2018

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Simultaneous partial monosomy 10p and trisomy 5q in a case of hypoparathyroidism

21 January 2018

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Familial dup(5)(q15q21) associated with normal and abnormal phenotypes

21 January 2018

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Duplication 5q(5q22----5q33): from an intrachromosomal insertion

21 January 2018

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Familial 5q11.2----q13.3 segmental duplication cosegregating with multiple anomalies, including schizophrenia

21 January 2018

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Duplication within chromosome 5q characterized by fluorescence in situ hybridization

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The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features

21 January 2018

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Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome

21 January 2018

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Partial trisomy 5q and partial monosomy 5q within the same family

21 January 2018

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Hardware and software requirements for quantitative analysis of comparative genomic hybridization

21 January 2018

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Terminal deletion of the short arm of chromosome 5.

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10261

Cri du chat syndrome due to meiotic recombination in a pericentric inversion 5 carrier

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10261

Partial proximal trisomy of the long arm of chromosome 5 (q13 leads to q22) resulting from maternal insertion der ins (10;5)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10261

Characterization of a de novo unbalanced chromosome rearrangement by comparative genomic hybridization and fluorescence in situ hybridization

21 January 2018

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The ACMG CYTO2000 subcommittee?

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.10261

Cytologic observations in 35 individuals with a 5p- karyotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10261

Parental origin of chromosome 5 deletions in the cri-du-chat syndrome

21 January 2018

1 reference

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Fetal manifestation of a chromosomal disorder: partial duplication of the long arm of chromosome 5 (5q33 to qter)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10261

Partial trisomy 5q: three different phenotypes depending on different duplication segments

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10261

Prenatal diagnosis of de novo distal 5q duplication associated with hygroma colli, fetal oedema and complex cardiopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10261

Duplication of 5q11.2----q13.1 from a familial (5;20) balanced insertion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10261

21 January 2018

Identifiers

DOI

10.1002/AJMG.10261

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3 August 2017

1 reference