A submicroscopic deletion involving part of the CREBBP gene detected by array-CGH in a patient with Rubinstein-Taybi syndrome.
Gene
; 499(1): 182-5, 2012 May 10.
Article
en En
| MEDLINE
| ID: mdl-22426292
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.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Síndrome de Rubinstein-Taybi
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Eliminación de Secuencia
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Proteína de Unión a CREB
Límite:
Adolescent
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Child
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Female
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Humans
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Infant
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Male
Idioma:
En
Revista:
Gene
Año:
2012
Tipo del documento:
Article