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Article

A microduplication of CBP in a patient with mental retardation and a congenital heart defect.

American journal of medical genetics. Part A - 15 Sept 2007

Thienpont Bernard, Breckpot Jeroen, Holvoet Maureen, Vermeesch Joris R, Devriendt Koen

Abstract excerpt

Rubinstein-Taybi syndrome is a well-characterized genetic syndrome caused by haploinsufficiency of CBP in a majority of individuals. In 10% of cases a microdeletion in 16p13.3 affecting CBP is detected. We report on a patient with a de novo 345-480 kb micro-duplication the region, encompassing only CBP and TRAP1. This boy presented with various minor physical anomalies, moderate mental retardation, and an atrial...

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Share to Chromosomes, Human, Pair 16
Share to CREB-Binding Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17702016
DOI: 10.1002/ajmg.a.31893

Genes

TRAP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A microduplication of CBP in a patient with mental retardation and a congenital heart defect.PMID 17702016Read ↗

A microduplication of the Rubinstein-Taybi region on 16p13.3 in a girl with a bilateral complete cleft lip and palate and severe mental retardation.Semantic proximity Read ↗

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

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

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

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

Molecular analysis of the <i>CBP</i> gene in 60 patients with Rubinstein-Taybi syndromeSemantic proximity Read ↗

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

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.Semantic proximity Read ↗

Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotype.Semantic proximity Read ↗

A boy with classical Rubinstein-Taybi syndrome but no detectable mutation in the CREBBP and EP300 genes.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 ↗

Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR.Semantic proximity Read ↗

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