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Article

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

Annals of clinical and laboratory science - 1 Jan 2013

Kim Suk Ran, Kim Hee-Jin, Kim Yae-Jean, Kwon Jeong-Yi, Kim Jong-Won, Kim Sun-Hee

Abstract excerpt

Rubinstein-Taybi syndrome (RTS) is a multiple congenital anomaly syndrome characterized by facial abnormalities, broad thumbs and toes, and mental retardation. RTS is known to be caused by the disruption, either by point mutations or microdeletions, of the human CREB-binding protein (CREBBP) gene on 16p13.3. Gross rearrangements involving 16p13.3, such as translocations or inversions, have rarely been reported in...

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Identifiers

PMID: 24247805

Genes

CREBBP

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Cryptic microdeletion of the CREBBP gene from t(1;16) (p36.2;p13.3) as a novel genetic defect causing Rubinstein-Taybi syndrome.PMID 24247805Read ↗

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Submicroscopic deletion of chromosome 16p13.3 in patients with 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 ↗

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

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

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

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