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Article

Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotype.

European journal of medical genetics - 1 Jan 2013

Demeer Bénédicte, Andrieux Joris, Receveur Aline, Morin Gilles, Petit Florence, Julia Sophie, Plessis Ghislaine, Martin-Coignard Dominique, Delobel Bruno, Firth Helen V, Thuresson Ann C, Lanco Dosen Sandrine, Sjörs Kerstin, Le Caignec Cedric, Devriendt Koenraad, Mathieu-Dramard Michèle

Abstract excerpt

The introduction of molecular karyotyping technologies into the diagnostic work-up of patients with congenital disorders permitted the identification and delineation of novel microdeletion and microduplication syndromes. Interstitial 16p13.3 duplication, encompassing the CREBBP gene, which is mutated or deleted in the Rubinstein-Taybi syndrome, have been proposed to cause a recognisable syndrome with variable...

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Share to Chromosome Duplication
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23063576
DOI: 10.1016/j.ejmg.2012.09.005

Genes

CREBBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotype.PMID 23063576Read ↗

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome.Semantic proximity Read ↗

Interstitial 16p13.3 microduplication: case report and critical review of genotype-phenotype correlation.Semantic proximity Read ↗

Duplication of the Rubinstein-Taybi region on 16p13.3 is associated with a distinctive phenotype.Semantic proximity Read ↗

Phenotypic expansion of the interstitial 16p13.3 duplication: a case report and review of the literature.Semantic proximity Read ↗

Maternally inherited autosomal dominant intellectual disability caused by 16p13.3 microduplication.Semantic proximity Read ↗

Cryptic microdeletion of the CREBBP gene from t(1;16) (p36.2;p13.3) as a novel genetic defect causing Rubinstein-Taybi syndrome.Semantic proximity Read ↗

Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome.Semantic proximity Read ↗

16p13 microduplication without CREBBP involvement: Moving toward a phenotype delineation.Semantic proximity Read ↗

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.Semantic proximity Read ↗

Rubinstein-Taybi syndrome caused by a de novo reciprocal translocation t(2;16)(q36.3;p13.3)Semantic proximity Read ↗

Construction of a 1.2-Mb contig surrounding, and molecular analysis of, the human CREB-binding protein (CBP/CREBBP) gene on chromosome 16p13.3.Semantic proximity Read ↗

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