title: A submicroscopic deletion involving part of the CREBBP gene detected by array-CGH in a patient with Rubinstein-Taybi syndrome.
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 81.4kb involving three genes DNASE 1, TRAP 1, and CREBBP.
authors.affiliation: Genetics Service, KK Women's and Children's Hospital, Republic of Singapore.
authors.forename: Angeline H M
authors.initials: AH
authors.lastname: Lai
authors.forename: Maggie S
authors.initials: MS
authors.lastname: Brett
authors.forename: Wai-Hoe
authors.initials: WH
authors.lastname: Chin
authors.forename: Eileen C P
authors.initials: EC
authors.lastname: Lim
authors.forename: Jasmine S H
authors.initials: JS
authors.lastname: Ng
authors.forename: Ene-Choo
authors.initials: EC
authors.lastname: Tan
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D050882:CREB-Binding Protein / Q000235:genetics*; D002648:Child; D055028:Comparative Genomic Hybridization; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D012415:Rubinstein-Taybi Syndrome / Q000235:genetics*; D017384:Sequence Deletion / Q000502:physiology; D035781:Siblings
chemical_list: D050882:CREB-Binding Protein; C494363:CREBBP protein, human