A de novo 2.9 Mb interstitial deletion at 13q12.11 in a child with developmental delay accompanied by mild dysmorphic characteristics

BACKGROUND: Proximal deletions in the 13q12.11 region are very rare. Much larger deletions including this region have been described and are associated with complex phenotypes of mental retardation, developmental delay and various others anomalies. RESULTS: We report on a 3-year-old girl with a rare...

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Detalhes bibliográficos
Publicado no:Mol Cytogenet
Main Authors: Lagou, Magdalini, Papoulidis, Ioannis, Orru, Sandro, Papadopoulos, Vasileios, Daskalakis, George, Kontodiou, Maria, Anastasakis, Eleftherios, Petersen, Michael B, Kitsos, George, Thomaidis, Loretta, Manolakos, Emmanouil
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4265435/
https://ncbi.nlm.nih.gov/pubmed/25506395
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-014-0092-5
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