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

doi:10.1136/jmg.2009.070573

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Article

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

Journal of medical genetics - 1 Mar 2010

Thienpont Bernard, Béna Frédérique, Breckpot Jeroen, Philip Nicole, Menten Björn, Van Esch Hilde, Scalais Emmanuel, Salamone Jessica M, Fong Chin-To, Kussmann Jennifer L, Grange Dorothy K, Gorski Jerome L, Zahir Farah, Yong Siu Li, Morris Michael M, Gimelli Stefania, Fryns Jean-Pierre, Mortier Geert, Friedman Jan M, Villard Laurent, Bottani Armand, Vermeesch Joris R, Cheung Sau Wai, Devriendt Koen

Abstract excerpt

BACKGROUND: The introduction of molecular karyotyping technologies facilitated the identification of specific genetic disorders associated with imbalances of certain genomic regions. A detailed phenotypic delineation of interstitial 16p13.3 duplications is hampered by the scarcity of such patients. OBJECTIVES: To delineate the phenotypic spectrum associated with interstitial 16p13.3 duplications, and perform a...

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Identifiers

PMID: 19833603
DOI: 10.1136/jmg.2009.070573

Genes

CREBBP

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome.PMID 19833603Read ↗

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

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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 ↗

Expanding the phenotype of duplication of the Rubinstein-Taybi region on 16p13.3.Semantic proximity Read ↗

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

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Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein–Taybi syndromeSemantic proximity Read ↗

Clinical and Genetic Management of a Patient with Rubinstein-Taybi Syndrome Type 1: A Case ReportSemantic proximity Read ↗

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