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Article

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

1 May 2000

Abstract excerpt

Rubinstein-Taybi syndrome (RTS) is a multiple congenital anomalies and mental retardation syndrome characterized by facial abnormalities, broad thumbs, and broad big toes. We have shown previously that disruption of the human CREB-binding protein (CBP) gene, either by gross chromosomal rearrangements or by point mutations, leads to RTS. Translocations and inversions involving chromosome band 16p13.3 form the...

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PMID: 10797422
DOI: 10.1002/(sici)1096-8628(20000501)92:1<47::aid-ajmg8>3.0.co;2-h

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Click a neighbor to travelStep 1 · 12 closest

Rubinstein-Taybi syndrome caused by a de novo reciprocal translocation t(2;16)(q36.3;p13.3)PMID 10797422Read ↗

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 ↗

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 ↗

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

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

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

Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndrome.Semantic proximity Read ↗

Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report.Semantic proximity Read ↗

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

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

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

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

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

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