Cri-du-Chat syndrome diagnosed in a 21-year-old woman by means of comparative genomic hybridization
The cri-du-chat syndrome is caused by a deletion on the short arm of chromosome number 5. The size of genetic material loss varies from the 5p15.2 region only to the whole arm. Prevalence rates range between 1:15000 and 1:50000 live births. Diagnosis is suspected on infants with a high-pitched (cat-...
- Autores:
-
Saldarriaga, Wilmar
Collazos-Saa, Laura
Ramírez-Cheyne, Julián
- Tipo de recurso:
- Article of journal
- Fecha de publicación:
- 2017
- Institución:
- Universidad Nacional de Colombia
- Repositorio:
- Universidad Nacional de Colombia
- Idioma:
- spa
- OAI Identifier:
- oai:repositorio.unal.edu.co:unal/65035
- Acceso en línea:
- https://repositorio.unal.edu.co/handle/unal/65035
http://bdigital.unal.edu.co/66058/
- Palabra clave:
- 61 Ciencias médicas; Medicina / Medicine and health
Cri-du-Chat Syndrome
5p Deletion Syndrome
Comparative Genomic Hybridization
Mental Retardation
Síndrome del maullido del gato
Síndrome de deleción del brazo corto del cromosoma 5
hibridación genómica comparativa
Discapacidad intelectual
- Rights
- openAccess
- License
- Atribución-NoComercial 4.0 Internacional