A novel deletion in 2q24.1q24.2 in a girl with mental retardation and generalized hypotonia: a case report

BACKGROUND: Chromosomal imbalances, recognized as the major cause of mental retardation, are often due to submicroscopic deletions or duplications not evidenced by conventional cytogenetic methods. To date, interstitial deletion of long arm of chromosome 2 have been reported for more than 100 cases,...

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Detalles Bibliográficos
Autores principales: Palumbo, Orazio, Palumbo, Pietro, Palladino, Teresa, Stallone, Raffaella, Zelante, Leopoldo, Carella, Massimo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267682/
https://www.ncbi.nlm.nih.gov/pubmed/22214275
http://dx.doi.org/10.1186/1755-8166-5-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267682/
https://www.ncbi.nlm.nih.gov/pubmed/22214275
http://dx.doi.org/10.1186/1755-8166-5-1

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