Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature

BACKGROUND: Partial deletion of chromosome 21q is a very rare chromosomal abnormality associated with highly variable phenotypes, such as facial dysmorphic features, heart defects, seizures, psychomotor delay, and severe to mild intellectual disability, depending on the location and size of deletion...

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Detalles Bibliográficos
Autores principales: Errichiello, Edoardo, Novara, Francesca, Cremante, Anna, Verri, Annapia, Galli, Jessica, Fazzi, Elisa, Bellotti, Daniela, Losa, Laura, Cisternino, Mariangela, Zuffardi, Orsetta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5020505/
https://www.ncbi.nlm.nih.gov/pubmed/27625702
http://dx.doi.org/10.1186/s13039-016-0230-3

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