A submicroscopic deletion involving part of the CREBBP gene detected by array-CGH in a patient with Rubinstein-Taybi syndrome

Please use this identifier to cite or link to this item: https://doi.org/10.1016/j.gene.2012.02.043

Title:	A submicroscopic deletion involving part of the CREBBP gene detected by array-CGH in a patient with Rubinstein-Taybi syndrome
Authors:	Lai, A.H.M. Brett, M.S. Chin, W.-H. Lim, E.C.P. Ng, J.S.H. Tan, E.-C.
Keywords:	CREBBP DNASE 1 Microdeletion Rubinstein-Taybi syndrome TRAP 1
Issue Date:	10-May-2012
Citation:	Lai, A.H.M., Brett, M.S., Chin, W.-H., Lim, E.C.P., Ng, J.S.H., Tan, E.-C. (2012-05-10). A submicroscopic deletion involving part of the CREBBP gene detected by array-CGH in a patient with Rubinstein-Taybi syndrome. Gene 499 (1) : 182-185. ScholarBank@NUS Repository. https://doi.org/10.1016/j.gene.2012.02.043
Abstract:	We report a girl with Rubinstein-Taybi syndrome (RSTS) who was found to have copy number loss on 16p13.3 by array-CGH. She has developmental delay and other features of RSTS including downslanting palpebral fissures, a prominent nose with the nasal septum extending below the alae nasi, broad thumbs and big toes, postaxial polydactyly of the right foot and constipation from birth. We report the junction sequence across the breakpoint region for a microdeletion in RSTS. The sequencing results also showed that the deletion was 81.4. kb involving three genes . DNASE 1, . TRAP 1, and . CREBBP. © 2012 Elsevier B.V.
Source Title:	Gene
URI:	http://scholarbank.nus.edu.sg/handle/10635/108242
ISSN:	03781119
DOI:	10.1016/j.gene.2012.02.043
Appears in Collections:	Staff Publications

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