Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion

BACKGROUND: Interstitial 6q deletions, involving the 6q15q25 chromosomal region, are rare events characterized by variable phenotypes and no clear karyotype/phenotype correlation has been determined yet. RESULTS: We present a child with a 6q21q22.1 deletion, characterized by array-CGH, associated wi...

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Dades bibliogràfiques
Publicat a:Mol Cytogenet
Autors principals: Tassano, Elisa, Mirabelli-Badenier, Marisol, Veneselli, Edvige, Puliti, Aldamaria, Lerone, Margherita, Vaccari, Carlotta Maria, Morana, Giovanni, Porta, Simona, Gimelli, Giorgio, Cuoco, Cristina
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2015
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4457201/
https://ncbi.nlm.nih.gov/pubmed/26052347
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-015-0134-7
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