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

BACKGROUND: 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...

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Detalles Bibliográficos
Autores principales: Ruiz-Botero, Felipe, Pachajoa, Harry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4962380/
https://www.ncbi.nlm.nih.gov/pubmed/27459995
http://dx.doi.org/10.1186/s13256-016-0988-2