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

作者：Lai Angeline H M; Brett Maggie S; Chin Wai Hoe; Lim Eileen C P; Ng Jasmine S H; Tan Ene Choo^*

来源：Gene, 2012, 499(1): 182-185.

DOI：10.1016/j.gene.2012.02.043

• CREBBP
• DNASE 1
• Microdeletion
• Rubinstein-Taybi syndrome
• TRAP 1

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.

• 出版日期2012-5-10