A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases

BACKGROUND: The rearrangements of the 22q11.2 chromosomal region, most frequently deletions and duplications, have been known to be responsible for multiple congenital anomaly disorders. These rearrangements are implicated in syndromes that have some phenotypic resemblances. While the 22q11.2 deleti...

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Detalles Bibliográficos
Autores principales: Vaz, Sara O., Pires, Renato, Pires, Luís M., Carreira, Isabel M., Anjos, Rui, Maciel, Paula, Mota-Vieira, Luisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4546098/
https://www.ncbi.nlm.nih.gov/pubmed/26297018
http://dx.doi.org/10.1186/s12887-015-0417-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4546098/
https://www.ncbi.nlm.nih.gov/pubmed/26297018
http://dx.doi.org/10.1186/s12887-015-0417-5

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