Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development

BACKGROUND: IInterstitial 21q deletions can cause a wide spectrum of symptoms depending on the size and the location of the deletion. It has previously been suggested that the long arm of chromosome 21 can be divided into three regions based on the clinical severity of the patients and deletion of t...

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Detalles Bibliográficos
Autores principales: Jespersgaard, Cathrine, Damgaard, Ida N., Cornelius, Nanna, Bache, Iben, Knabe, Niels, Miranda, Maria J., Tümer, Zeynep
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4743331/
https://www.ncbi.nlm.nih.gov/pubmed/26855673
http://dx.doi.org/10.1186/s13039-016-0220-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4743331/
https://www.ncbi.nlm.nih.gov/pubmed/26855673
http://dx.doi.org/10.1186/s13039-016-0220-5

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