De novo 7p partial trisomy characterized by subtelomeric FISH and whole-genome array in a girl with mental retardation

Chromosome rearrangements involving telomeres have been established as one of the major causes of idiopathic mental retardation/developmental delay. This case of 7p partial trisomy syndrome in a 3-year-old female child presenting with developmental delay emphasizes the clinical relevance of cytogene...

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Detalles Bibliográficos
Autores principales: S, Aswini, Padmalatha, Venkata O, G, Saranya, T, Durgadatta, T, Raseswari, Kulashekaran, Kanakavalli M, J, Meena, N, Chandra, S, Lalji, Kandukuri, Lakshmi R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3193804/
https://www.ncbi.nlm.nih.gov/pubmed/21968244
http://dx.doi.org/10.1186/1755-8166-4-21

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