(Q33680550)

28 July 2017

title

Trisomy 2q11.2-->q21.1 resulting from an unbalanced insertion in two generations (English)

1 reference

28 July 2017

Glass IA

1

1 reference

28 July 2017

Stormer P

2

1 reference

28 July 2017

Oei PT

3

1 reference

28 July 2017

Hacking E

4

1 reference

28 July 2017

Cotter PD

5

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 April 1998

1 reference

Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

35

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28 July 2017

issue

4

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28 July 2017

page(s)

319-322

1 reference

Unbalanced karyotype, dup 14(q13-q22), in a mother and her two children.

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051282

Molecular cytogenetic characterisation of the first familial case of partial 9p duplication (p22p24)

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051282

Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2: report of five families with a review of the literature

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051282

Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q)

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051282

Familial inverted duplication 7p.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051282

Recurrence of DiGeorge syndrome: prenatal detection by FISH of a molecular 22q11 deletion

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051282

De novo direct tandem duplication of the proximal long arm of chromosome 2: 46,XX,dir dup(2)(q11 X 2q14 X 2)

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051282

Interstitial deletion of the short arm of chromosome 5 in a mother and three children.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051282

Familial retinoblastoma (mother and son) with 13q14 deletion.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051282

Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051282

Chromosome imbalance, normal phenotype, and imprinting

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051282

Reproduction in Down's syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051282

Prenatal ascertainment of an inherited dup(18p) associated with an apparently normal phenotype

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051282

Molecular cytogenetic analysis of a familial 8p23.1 deletion associated with minimal dysmorphic features, seizures, and mild mental retardation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051282

Clinical phenotype and molecular analysis of a three-generation family with an interstitial deletion of the short arm of chromosome 5.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051282

An intrachromosomal insertion causing 5q22 deletion and familial adenomatous polyposis coli in two generations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051282

Unbalanced translocation in a mother and her son in one of two 5;10 translocation families.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051282

Direct transmission of a tandem duplication in the short arm of chromosome 8.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051282

Schizophrenia: A genome scan targets chromosomes 3p and 8p as potential sites of susceptibility genes

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051282

Reproduction in Down syndrome

30 October 2018

1 reference

12 December 2020

Detection of an unbalanced translocation (4;14) in a mildly retarded father and son by flow cytometry

1 reference

12 December 2020

Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

1 reference

12 December 2020

Fertility and the cri du chat syndrome

1 reference

12 December 2020

No proof of linkage between schizophrenia-related disorders including schizophrenia and chromosome 2q21 region

1 reference

12 December 2020

Markers on distal chromosome 2q linked to insulin-dependent diabetes mellitus

1 reference

12 December 2020

A linkage study of schizophrenia with DNA markers from chromosome 8p21-p22 in 25 multiplex families

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.35.4.319

1 reference

28 July 2017

1 reference

28 July 2017

1 reference