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-...

Full description

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