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

Angeline H M Lai, Maggie S Brett, Wai-Hoe Chin, Eileen C P Lim, Jasmine S H Ng, Ene-Choo Tan

Genetics Service, KK Women's and Children's Hospital, Republic of Singapore.

Gene 2012 May 10

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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 81.4kb involving three genes DNASE 1, TRAP 1, and CREBBP. Copyright © 2012 Elsevier B.V. All rights reserved.

Citation

Angeline H M Lai, Maggie S Brett, Wai-Hoe Chin, Eileen C P Lim, Jasmine S H Ng, Ene-Choo Tan. A submicroscopic deletion involving part of the CREBBP gene detected by array-CGH in a patient with Rubinstein-Taybi syndrome. Gene. 2012 May 10;499(1):182-5