Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: A case report

Genetic disorders are a major cause in the etiology of cases with intellectual disability; however, analysis by a conventional technique such as cytogenetic karyotyping only allows the detection of chromosomal alterations in approximately 9.5 % of cases. The inclusion of new technologies such as hig...

Full description

Autores:
Ruiz-Botero, Felipe
Pachajoa Londoño, Harry Mauricio
Tipo de recurso:
Article of investigation
Fecha de publicación:
2016
Institución:
Universidad ICESI
Repositorio:
Repositorio ICESI
Idioma:
eng
OAI Identifier:
oai:repository.icesi.edu.co:10906/81647
Acceso en línea:
http://hdl.handle.net/10906/81647
http://dx.doi.org/10.1186/s13256-016-0988-2
Palabra clave:
Ciencias socio biomédicas
Hibridación genómica comparativa
Discapacidad intelectual
Medical sciences
Hibridación genómica comparativa
Trastornos genéticos
Rights
openAccess
License
https://creativecommons.org/licenses/by-nc-nd/4.0/
Description
Summary:Genetic disorders are a major cause in the etiology of cases with intellectual disability; however, analysis by a conventional technique such as cytogenetic karyotyping only allows the detection of chromosomal alterations in approximately 9.5 % of cases. The inclusion of new technologies such as high resolution microarray analysis has allowed the study of alterations in chromosomal segments that are less than 5 Mb in length; this has led to an increase in the diagnosis of these patients of up to 25 %.