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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Enregistré dans:
Détails bibliographiques
Publié dans:BMC Pediatr
Auteurs principaux: Vaz, Sara O., Pires, Renato, Pires, Luís M., Carreira, Isabel M., Anjos, Rui, Maciel, Paula, Mota-Vieira, Luisa
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2015
Sujets:
Case Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4546098/
https://ncbi.nlm.nih.gov/pubmed/26297018
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-015-0417-5
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